Name: rs121913227
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs121913227

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:140753336-140753337 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: AC>CG / AC>CT / AC>TG / AC>TT
Variation Type: MNV Multiple Nucleotide Variation
Frequency: None

Clinical Significance: Reported in ClinVar
Gene : Consequence: BRAF : Missense Variant
Publications: 21 citations
Genomic View: See rs on genome

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.140753336_140753337delinsCG
GRCh38.p14 chr 7	NC_000007.14:g.140753336_140753337delinsCT
GRCh38.p14 chr 7	NC_000007.14:g.140753336_140753337delinsTG
GRCh38.p14 chr 7	NC_000007.14:g.140753336_140753337delinsTT
GRCh37.p13 chr 7	NC_000007.13:g.140453136_140453137delinsCG
GRCh37.p13 chr 7	NC_000007.13:g.140453136_140453137delinsCT
GRCh37.p13 chr 7	NC_000007.13:g.140453136_140453137delinsTG
GRCh37.p13 chr 7	NC_000007.13:g.140453136_140453137delinsTT
BRAF RefSeqGene (LRG_299)	NG_007873.3:g.176428_176429delinsCG
BRAF RefSeqGene (LRG_299)	NG_007873.3:g.176428_176429delinsAG
BRAF RefSeqGene (LRG_299)	NG_007873.3:g.176428_176429delinsCA
BRAF RefSeqGene (LRG_299)	NG_007873.3:g.176428_176429delinsAA

Gene: BRAF, B-Raf proto-oncogene, serine/threonine kinase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRAF transcript variant 1	NM_004333.6:c.1798_1799de… NM_004333.6:c.1798_1799delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1	NP_004324.2:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 1	NM_004333.6:c.1798_1799de… NM_004333.6:c.1798_1799delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1	NP_004324.2:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 1	NM_004333.6:c.1798_1799de… NM_004333.6:c.1798_1799delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1	NP_004324.2:p.Val600Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 1	NM_004333.6:c.1798_1799de… NM_004333.6:c.1798_1799delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1	NP_004324.2:p.Val600Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 2	NM_001354609.2:c.1798_179… NM_001354609.2:c.1798_1799delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2	NP_001341538.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 2	NM_001354609.2:c.1798_179… NM_001354609.2:c.1798_1799delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2	NP_001341538.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 2	NM_001354609.2:c.1798_179… NM_001354609.2:c.1798_1799delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2	NP_001341538.1:p.Val600Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 2	NM_001354609.2:c.1798_179… NM_001354609.2:c.1798_1799delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2	NP_001341538.1:p.Val600Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 4	NM_001374244.1:c.1918_191… NM_001374244.1:c.1918_1919delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 3	NP_001361173.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 4	NM_001374244.1:c.1918_191… NM_001374244.1:c.1918_1919delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 3	NP_001361173.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 4	NM_001374244.1:c.1918_191… NM_001374244.1:c.1918_1919delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 3	NP_001361173.1:p.Val640Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 4	NM_001374244.1:c.1918_191… NM_001374244.1:c.1918_1919delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 3	NP_001361173.1:p.Val640Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 5	NM_001374258.1:c.1918_191… NM_001374258.1:c.1918_1919delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 4	NP_001361187.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 5	NM_001374258.1:c.1918_191… NM_001374258.1:c.1918_1919delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 4	NP_001361187.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 5	NM_001374258.1:c.1918_191… NM_001374258.1:c.1918_1919delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 4	NP_001361187.1:p.Val640Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 5	NM_001374258.1:c.1918_191… NM_001374258.1:c.1918_1919delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 4	NP_001361187.1:p.Val640Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 11	NM_001378472.1:c.1642_164… NM_001378472.1:c.1642_1643delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 10	NP_001365401.1:p.Val548Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 11	NM_001378472.1:c.1642_164… NM_001378472.1:c.1642_1643delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 10	NP_001365401.1:p.Val548Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 11	NM_001378472.1:c.1642_164… NM_001378472.1:c.1642_1643delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 10	NP_001365401.1:p.Val548Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 11	NM_001378472.1:c.1642_164… NM_001378472.1:c.1642_1643delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 10	NP_001365401.1:p.Val548Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 6	NM_001378467.1:c.1807_180… NM_001378467.1:c.1807_1808delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 5	NP_001365396.1:p.Val603Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 6	NM_001378467.1:c.1807_180… NM_001378467.1:c.1807_1808delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 5	NP_001365396.1:p.Val603Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 6	NM_001378467.1:c.1807_180… NM_001378467.1:c.1807_1808delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 5	NP_001365396.1:p.Val603Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 6	NM_001378467.1:c.1807_180… NM_001378467.1:c.1807_1808delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 5	NP_001365396.1:p.Val603Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 8	NM_001378469.1:c.1732_173… NM_001378469.1:c.1732_1733delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 7	NP_001365398.1:p.Val578Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 8	NM_001378469.1:c.1732_173… NM_001378469.1:c.1732_1733delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 7	NP_001365398.1:p.Val578Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 8	NM_001378469.1:c.1732_173… NM_001378469.1:c.1732_1733delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 7	NP_001365398.1:p.Val578Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 8	NM_001378469.1:c.1732_173… NM_001378469.1:c.1732_1733delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 7	NP_001365398.1:p.Val578Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 7	NM_001378468.1:c.1798_179… NM_001378468.1:c.1798_1799delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 6	NP_001365397.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 7	NM_001378468.1:c.1798_179… NM_001378468.1:c.1798_1799delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 6	NP_001365397.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 7	NM_001378468.1:c.1798_179… NM_001378468.1:c.1798_1799delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 6	NP_001365397.1:p.Val600Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 7	NM_001378468.1:c.1798_179… NM_001378468.1:c.1798_1799delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 6	NP_001365397.1:p.Val600Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 9	NM_001378470.1:c.1696_169… NM_001378470.1:c.1696_1697delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 8	NP_001365399.1:p.Val566Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 9	NM_001378470.1:c.1696_169… NM_001378470.1:c.1696_1697delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 8	NP_001365399.1:p.Val566Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 9	NM_001378470.1:c.1696_169… NM_001378470.1:c.1696_1697delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 8	NP_001365399.1:p.Val566Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 9	NM_001378470.1:c.1696_169… NM_001378470.1:c.1696_1697delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 8	NP_001365399.1:p.Val566Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 14	NM_001378475.1:c.1534_153… NM_001378475.1:c.1534_1535delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 13	NP_001365404.1:p.Val512Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 14	NM_001378475.1:c.1534_153… NM_001378475.1:c.1534_1535delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 13	NP_001365404.1:p.Val512Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 14	NM_001378475.1:c.1534_153… NM_001378475.1:c.1534_1535delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 13	NP_001365404.1:p.Val512Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 14	NM_001378475.1:c.1534_153… NM_001378475.1:c.1534_1535delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 13	NP_001365404.1:p.Val512Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 10	NM_001378471.1:c.1687_168… NM_001378471.1:c.1687_1688delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 9	NP_001365400.1:p.Val563Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 10	NM_001378471.1:c.1687_168… NM_001378471.1:c.1687_1688delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 9	NP_001365400.1:p.Val563Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 10	NM_001378471.1:c.1687_168… NM_001378471.1:c.1687_1688delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 9	NP_001365400.1:p.Val563Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 10	NM_001378471.1:c.1687_168… NM_001378471.1:c.1687_1688delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 9	NP_001365400.1:p.Val563Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 12	NM_001378473.1:c.1642_164… NM_001378473.1:c.1642_1643delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 11	NP_001365402.1:p.Val548Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 12	NM_001378473.1:c.1642_164… NM_001378473.1:c.1642_1643delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 11	NP_001365402.1:p.Val548Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 12	NM_001378473.1:c.1642_164… NM_001378473.1:c.1642_1643delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 11	NP_001365402.1:p.Val548Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 12	NM_001378473.1:c.1642_164… NM_001378473.1:c.1642_1643delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 11	NP_001365402.1:p.Val548Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant 13	NM_001378474.1:c.1798_179… NM_001378474.1:c.1798_1799delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 12	NP_001365403.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 13	NM_001378474.1:c.1798_179… NM_001378474.1:c.1798_1799delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 12	NP_001365403.1:p.Val600Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant 13	NM_001378474.1:c.1798_179… NM_001378474.1:c.1798_1799delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 12	NP_001365403.1:p.Val600Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant 13	NM_001378474.1:c.1798_179… NM_001378474.1:c.1798_1799delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 12	NP_001365403.1:p.Val600Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant X4	XM_047420768.1:c.1815-391… XM_047420768.1:c.1815-3919_1815-3918delinsCG	N/A	Intron Variant
BRAF transcript variant X5	XM_047420769.1:c.1695-391… XM_047420769.1:c.1695-3919_1695-3918delinsCG	N/A	Intron Variant
BRAF transcript variant X1	XM_017012559.2:c.1918_191… XM_017012559.2:c.1918_1919delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1	XP_016868048.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X1	XM_017012559.2:c.1918_191… XM_017012559.2:c.1918_1919delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1	XP_016868048.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X1	XM_017012559.2:c.1918_191… XM_017012559.2:c.1918_1919delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1	XP_016868048.1:p.Val640Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant X1	XM_017012559.2:c.1918_191… XM_017012559.2:c.1918_1919delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1	XP_016868048.1:p.Val640Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant X2	XM_047420766.1:c.1762_176… XM_047420766.1:c.1762_1763delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2	XP_047276722.1:p.Val588Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X2	XM_047420766.1:c.1762_176… XM_047420766.1:c.1762_1763delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2	XP_047276722.1:p.Val588Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X2	XM_047420766.1:c.1762_176… XM_047420766.1:c.1762_1763delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2	XP_047276722.1:p.Val588Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant X2	XM_047420766.1:c.1762_176… XM_047420766.1:c.1762_1763delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2	XP_047276722.1:p.Val588Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant X3	XM_047420767.1:c.1918_191… XM_047420767.1:c.1918_1919delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X3	XP_047276723.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X3	XM_047420767.1:c.1918_191… XM_047420767.1:c.1918_1919delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X3	XP_047276723.1:p.Val640Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X3	XM_047420767.1:c.1918_191… XM_047420767.1:c.1918_1919delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X3	XP_047276723.1:p.Val640Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant X3	XM_047420767.1:c.1918_191… XM_047420767.1:c.1918_1919delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X3	XP_047276723.1:p.Val640Lys	V (Val) > K (Lys)	Missense Variant
BRAF transcript variant X6	XM_047420770.1:c.1084_108… XM_047420770.1:c.1084_1085delinsCG	V [GTG] > R [CGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X6	XP_047276726.1:p.Val362Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X6	XM_047420770.1:c.1084_108… XM_047420770.1:c.1084_1085delinsAG	V [GTG] > R [AGG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X6	XP_047276726.1:p.Val362Arg	V (Val) > R (Arg)	Missense Variant
BRAF transcript variant X6	XM_047420770.1:c.1084_108… XM_047420770.1:c.1084_1085delinsCA	V [GTG] > Q [CAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X6	XP_047276726.1:p.Val362Gln	V (Val) > Q (Gln)	Missense Variant
BRAF transcript variant X6	XM_047420770.1:c.1084_108… XM_047420770.1:c.1084_1085delinsAA	V [GTG] > K [AAG]	Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X6	XP_047276726.1:p.Val362Lys	V (Val) > K (Lys)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: CT (allele ID: 362819 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000440177.1	Melanoma	Pathogenic

Allele: TT (allele ID: 362820 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000422502.1	Melanoma	Pathogenic
RCV001030021.2	Vemurafenib-Cobimetinib Response	Drug-Response
RCV001030022.1	Trametinib-Dabrafenib Response	Drug-Response
RCV001355295.1	not provided	Uncertain-Significance

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	AC=	CG	CT	TG	TT
GRCh38.p14 chr 7	NC_000007.14:g.140753336_140753337=	NC_000007.14:g.140753336_140753337delinsCG	NC_000007.14:g.140753336_140753337delinsCT	NC_000007.14:g.140753336_140753337delinsTG	NC_000007.14:g.140753336_140753337delinsTT
GRCh37.p13 chr 7	NC_000007.13:g.140453136_140453137=	NC_000007.13:g.140453136_140453137delinsCG	NC_000007.13:g.140453136_140453137delinsCT	NC_000007.13:g.140453136_140453137delinsTG	NC_000007.13:g.140453136_140453137delinsTT
BRAF RefSeqGene (LRG_299)	NG_007873.3:g.176428_176429=	NG_007873.3:g.176428_176429delinsCG	NG_007873.3:g.176428_176429delinsAG	NG_007873.3:g.176428_176429delinsCA	NG_007873.3:g.176428_176429delinsAA
BRAF transcript variant 1	NM_004333.6:c.1798_1799=	NM_004333.6:c.1798_1799delinsCG	NM_004333.6:c.1798_1799delinsAG	NM_004333.6:c.1798_1799delinsCA	NM_004333.6:c.1798_1799delinsAA
BRAF transcript variant 1	NM_004333.5:c.1798_1799=	NM_004333.5:c.1798_1799delinsCG	NM_004333.5:c.1798_1799delinsAG	NM_004333.5:c.1798_1799delinsCA	NM_004333.5:c.1798_1799delinsAA
BRAF transcript	NM_004333.4:c.1798_1799=	NM_004333.4:c.1798_1799delinsCG	NM_004333.4:c.1798_1799delinsAG	NM_004333.4:c.1798_1799delinsCA	NM_004333.4:c.1798_1799delinsAA
BRAF transcript variant 2	NM_001354609.2:c.1798_1799=	NM_001354609.2:c.1798_1799delinsCG	NM_001354609.2:c.1798_1799delinsAG	NM_001354609.2:c.1798_1799delinsCA	NM_001354609.2:c.1798_1799delinsAA
BRAF transcript variant 2	NM_001354609.1:c.1798_1799=	NM_001354609.1:c.1798_1799delinsCG	NM_001354609.1:c.1798_1799delinsAG	NM_001354609.1:c.1798_1799delinsCA	NM_001354609.1:c.1798_1799delinsAA
BRAF transcript variant 5	NM_001374258.1:c.1918_1919=	NM_001374258.1:c.1918_1919delinsCG	NM_001374258.1:c.1918_1919delinsAG	NM_001374258.1:c.1918_1919delinsCA	NM_001374258.1:c.1918_1919delinsAA
BRAF transcript variant 6	NM_001378467.1:c.1807_1808=	NM_001378467.1:c.1807_1808delinsCG	NM_001378467.1:c.1807_1808delinsAG	NM_001378467.1:c.1807_1808delinsCA	NM_001378467.1:c.1807_1808delinsAA
BRAF transcript variant 9	NM_001378470.1:c.1696_1697=	NM_001378470.1:c.1696_1697delinsCG	NM_001378470.1:c.1696_1697delinsAG	NM_001378470.1:c.1696_1697delinsCA	NM_001378470.1:c.1696_1697delinsAA
BRAF transcript variant 10	NM_001378471.1:c.1687_1688=	NM_001378471.1:c.1687_1688delinsCG	NM_001378471.1:c.1687_1688delinsAG	NM_001378471.1:c.1687_1688delinsCA	NM_001378471.1:c.1687_1688delinsAA
BRAF transcript variant 7	NM_001378468.1:c.1798_1799=	NM_001378468.1:c.1798_1799delinsCG	NM_001378468.1:c.1798_1799delinsAG	NM_001378468.1:c.1798_1799delinsCA	NM_001378468.1:c.1798_1799delinsAA
BRAF transcript variant 14	NM_001378475.1:c.1534_1535=	NM_001378475.1:c.1534_1535delinsCG	NM_001378475.1:c.1534_1535delinsAG	NM_001378475.1:c.1534_1535delinsCA	NM_001378475.1:c.1534_1535delinsAA
BRAF transcript variant 11	NM_001378472.1:c.1642_1643=	NM_001378472.1:c.1642_1643delinsCG	NM_001378472.1:c.1642_1643delinsAG	NM_001378472.1:c.1642_1643delinsCA	NM_001378472.1:c.1642_1643delinsAA
BRAF transcript variant 4	NM_001374244.1:c.1918_1919=	NM_001374244.1:c.1918_1919delinsCG	NM_001374244.1:c.1918_1919delinsAG	NM_001374244.1:c.1918_1919delinsCA	NM_001374244.1:c.1918_1919delinsAA
BRAF transcript variant 8	NM_001378469.1:c.1732_1733=	NM_001378469.1:c.1732_1733delinsCG	NM_001378469.1:c.1732_1733delinsAG	NM_001378469.1:c.1732_1733delinsCA	NM_001378469.1:c.1732_1733delinsAA
BRAF transcript variant 12	NM_001378473.1:c.1642_1643=	NM_001378473.1:c.1642_1643delinsCG	NM_001378473.1:c.1642_1643delinsAG	NM_001378473.1:c.1642_1643delinsCA	NM_001378473.1:c.1642_1643delinsAA
BRAF transcript variant X1	XM_017012559.2:c.1918_1919=	XM_017012559.2:c.1918_1919delinsCG	XM_017012559.2:c.1918_1919delinsAG	XM_017012559.2:c.1918_1919delinsCA	XM_017012559.2:c.1918_1919delinsAA
BRAF transcript variant X2	XM_017012559.1:c.1918_1919=	XM_017012559.1:c.1918_1919delinsCG	XM_017012559.1:c.1918_1919delinsAG	XM_017012559.1:c.1918_1919delinsCA	XM_017012559.1:c.1918_1919delinsAA
BRAF transcript variant 3	NR_148928.2:n.2897_2898=	NR_148928.2:n.2897_2898delinsCG	NR_148928.2:n.2897_2898delinsAG	NR_148928.2:n.2897_2898delinsCA	NR_148928.2:n.2897_2898delinsAA
BRAF transcript variant X2	XM_047420766.1:c.1762_1763=	XM_047420766.1:c.1762_1763delinsCG	XM_047420766.1:c.1762_1763delinsAG	XM_047420766.1:c.1762_1763delinsCA	XM_047420766.1:c.1762_1763delinsAA
BRAF transcript variant X6	XM_047420770.1:c.1084_1085=	XM_047420770.1:c.1084_1085delinsCG	XM_047420770.1:c.1084_1085delinsAG	XM_047420770.1:c.1084_1085delinsCA	XM_047420770.1:c.1084_1085delinsAA
BRAF transcript variant 3	NR_148928.1:n.2896_2897=	NR_148928.1:n.2896_2897delinsCG	NR_148928.1:n.2896_2897delinsAG	NR_148928.1:n.2896_2897delinsCA	NR_148928.1:n.2896_2897delinsAA
BRAF transcript variant 13	NM_001378474.1:c.1798_1799=	NM_001378474.1:c.1798_1799delinsCG	NM_001378474.1:c.1798_1799delinsAG	NM_001378474.1:c.1798_1799delinsCA	NM_001378474.1:c.1798_1799delinsAA
BRAF transcript variant X3	XM_047420767.1:c.1918_1919=	XM_047420767.1:c.1918_1919delinsCG	XM_047420767.1:c.1918_1919delinsAG	XM_047420767.1:c.1918_1919delinsCA	XM_047420767.1:c.1918_1919delinsAA
serine/threonine-protein kinase B-raf isoform 1	NP_004324.2:p.Val600=	NP_004324.2:p.Val600Arg	NP_004324.2:p.Val600Arg	NP_004324.2:p.Val600Gln	NP_004324.2:p.Val600Lys
serine/threonine-protein kinase B-raf isoform 2	NP_001341538.1:p.Val600=	NP_001341538.1:p.Val600Arg	NP_001341538.1:p.Val600Arg	NP_001341538.1:p.Val600Gln	NP_001341538.1:p.Val600Lys
serine/threonine-protein kinase B-raf isoform 4	NP_001361187.1:p.Val640=	NP_001361187.1:p.Val640Arg	NP_001361187.1:p.Val640Arg	NP_001361187.1:p.Val640Gln	NP_001361187.1:p.Val640Lys
serine/threonine-protein kinase B-raf isoform 5	NP_001365396.1:p.Val603=	NP_001365396.1:p.Val603Arg	NP_001365396.1:p.Val603Arg	NP_001365396.1:p.Val603Gln	NP_001365396.1:p.Val603Lys
serine/threonine-protein kinase B-raf isoform 8	NP_001365399.1:p.Val566=	NP_001365399.1:p.Val566Arg	NP_001365399.1:p.Val566Arg	NP_001365399.1:p.Val566Gln	NP_001365399.1:p.Val566Lys
serine/threonine-protein kinase B-raf isoform 9	NP_001365400.1:p.Val563=	NP_001365400.1:p.Val563Arg	NP_001365400.1:p.Val563Arg	NP_001365400.1:p.Val563Gln	NP_001365400.1:p.Val563Lys
serine/threonine-protein kinase B-raf isoform 6	NP_001365397.1:p.Val600=	NP_001365397.1:p.Val600Arg	NP_001365397.1:p.Val600Arg	NP_001365397.1:p.Val600Gln	NP_001365397.1:p.Val600Lys
serine/threonine-protein kinase B-raf isoform 13	NP_001365404.1:p.Val512=	NP_001365404.1:p.Val512Arg	NP_001365404.1:p.Val512Arg	NP_001365404.1:p.Val512Gln	NP_001365404.1:p.Val512Lys
serine/threonine-protein kinase B-raf isoform 10	NP_001365401.1:p.Val548=	NP_001365401.1:p.Val548Arg	NP_001365401.1:p.Val548Arg	NP_001365401.1:p.Val548Gln	NP_001365401.1:p.Val548Lys
serine/threonine-protein kinase B-raf isoform 3	NP_001361173.1:p.Val640=	NP_001361173.1:p.Val640Arg	NP_001361173.1:p.Val640Arg	NP_001361173.1:p.Val640Gln	NP_001361173.1:p.Val640Lys
serine/threonine-protein kinase B-raf isoform 7	NP_001365398.1:p.Val578=	NP_001365398.1:p.Val578Arg	NP_001365398.1:p.Val578Arg	NP_001365398.1:p.Val578Gln	NP_001365398.1:p.Val578Lys
serine/threonine-protein kinase B-raf isoform 11	NP_001365402.1:p.Val548=	NP_001365402.1:p.Val548Arg	NP_001365402.1:p.Val548Arg	NP_001365402.1:p.Val548Gln	NP_001365402.1:p.Val548Lys
serine/threonine-protein kinase B-raf isoform X1	XP_016868048.1:p.Val640=	XP_016868048.1:p.Val640Arg	XP_016868048.1:p.Val640Arg	XP_016868048.1:p.Val640Gln	XP_016868048.1:p.Val640Lys
serine/threonine-protein kinase B-raf isoform X2	XP_047276722.1:p.Val588=	XP_047276722.1:p.Val588Arg	XP_047276722.1:p.Val588Arg	XP_047276722.1:p.Val588Gln	XP_047276722.1:p.Val588Lys
serine/threonine-protein kinase B-raf isoform X6	XP_047276726.1:p.Val362=	XP_047276726.1:p.Val362Arg	XP_047276726.1:p.Val362Arg	XP_047276726.1:p.Val362Gln	XP_047276726.1:p.Val362Lys
serine/threonine-protein kinase B-raf isoform 12	NP_001365403.1:p.Val600=	NP_001365403.1:p.Val600Arg	NP_001365403.1:p.Val600Arg	NP_001365403.1:p.Val600Gln	NP_001365403.1:p.Val600Lys
serine/threonine-protein kinase B-raf isoform X3	XP_047276723.1:p.Val640=	XP_047276723.1:p.Val640Arg	XP_047276723.1:p.Val640Arg	XP_047276723.1:p.Val640Gln	XP_047276723.1:p.Val640Lys
BRAF transcript variant X4	XM_047420768.1:c.1815-3918=	XM_047420768.1:c.1815-3919_1815-3918delinsCG	XM_047420768.1:c.1815-3919_1815-3918delinsAG	XM_047420768.1:c.1815-3919_1815-3918delinsCA	XM_047420768.1:c.1815-3919_1815-3918delinsAA
BRAF transcript variant X5	XM_047420769.1:c.1695-3918=	XM_047420769.1:c.1695-3919_1695-3918delinsCG	XM_047420769.1:c.1695-3919_1695-3918delinsAG	XM_047420769.1:c.1695-3919_1695-3918delinsCA	XM_047420769.1:c.1695-3919_1695-3918delinsAA

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

6 SubSNP, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DF-BWCC	ss275515045	Nov 22, 2010 (133)
2	DF-BWCC	ss275515236	May 06, 2011 (133)
3	CSS-BFX	ss5442109021	Oct 14, 2022 (156)
4	CSS-BFX	ss5442109022	Oct 14, 2022 (156)
5	CSS-BFX	ss5442109023	Oct 14, 2022 (156)
6	CSS-BFX	ss5442109024	Oct 14, 2022 (156)
7	ClinVar	RCV000422502.1	Oct 12, 2018 (152)
8	ClinVar	RCV000440177.1	Oct 12, 2018 (152)
9	ClinVar	RCV001030021.2	Oct 14, 2022 (156)
10	ClinVar	RCV001030022.1	Apr 26, 2020 (154)
11	ClinVar	RCV001355295.1	Oct 14, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5442109021	NC_000007.13:140453135:AC:CG	NC_000007.14:140753335:AC:CG
ss5442109022	NC_000007.13:140453135:AC:CT	NC_000007.14:140753335:AC:CT
RCV000440177.1, ss275515236	NC_000007.14:140753335:AC:CT	NC_000007.14:140753335:AC:CT	(self)
ss5442109023	NC_000007.13:140453135:AC:TG	NC_000007.14:140753335:AC:TG
ss5442109024	NC_000007.13:140453135:AC:TT	NC_000007.14:140753335:AC:TT
RCV000422502.1, RCV001030021.2, RCV001030022.1, RCV001355295.1, ss275515045	NC_000007.14:140753335:AC:TT	NC_000007.14:140753335:AC:TT	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

21 citations for rs121913227

PMID	Title	Author	Year	Journal
12068308	Mutations of the BRAF gene in human cancer.	Davies H et al.	2002	Nature
14679157	Determinants of BRAF mutations in primary melanomas.	Maldonado JL et al.	2003	Journal of the National Cancer Institute
20551065	RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models.	Yang H et al.	2010	Cancer research
20630094	Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.	Rubinstein JC et al.	2010	Journal of translational medicine
20818844	Inhibition of mutated, activated BRAF in metastatic melanoma.	Flaherty KT et al.	2010	The New England journal of medicine
21639808	Improved survival with vemurafenib in melanoma with BRAF V600E mutation.	Chapman PB et al.	2011	The New England journal of medicine
22048237	Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.	Kirkwood JM et al.	2012	Clinical cancer research
22356324	Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.	Sosman JA et al.	2012	The New England journal of medicine
22536370	Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.	Lovly CM et al.	2012	PloS one
22608338	Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.	Falchook GS et al.	2012	Lancet (London, England)
22663011	Improved survival with MEK inhibition in BRAF-mutated melanoma.	Flaherty KT et al.	2012	The New England journal of medicine
22735384	Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.	Hauschild A et al.	2012	Lancet (London, England)
22805292	Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.	Falchook GS et al.	2012	The Lancet. Oncology
22972589	Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.	Patel SP et al.	2013	Cancer
23020132	Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.	Flaherty KT et al.	2012	The New England journal of medicine
23237741	BRAF inhibitor activity in V600R metastatic melanoma.	Klein O et al.	2013	European journal of cancer (Oxford, England
23248257	Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor.	Kim KB et al.	2013	Journal of clinical oncology
23317446	Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.	Gentilcore G et al.	2013	BMC cancer
23918947	Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.	Ascierto PA et al.	2013	Journal of clinical oncology
25157968	Prospective enterprise-level molecular genotyping of a cohort of cancer patients.	MacConaill LE et al.	2014	The Journal of molecular diagnostics
25656898	Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.	Dienstmann R et al.	2015	Cancer discovery

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs121913227