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Links from Protein

Items: 1 to 20 of 350

1.

rs781371258 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:52054895 (GRCh38)
    12:52448679 (GRCh37)
    Canonical SPDI:
    NC_000012.12:52054894:C:T
    Gene:
    NR4A1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    T=0.000008/1 (ExAC)
    HGVS:
    3.

    rs781220383 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      12:52054981 (GRCh38)
      12:52448765 (GRCh37)
      Canonical SPDI:
      NC_000012.12:52054980:T:C,NC_000012.12:52054980:T:G
      Gene:
      NR4A1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (GnomAD_exomes)
      C=0.000014/2 (GnomAD)
      G=0.000017/2 (ExAC)
      HGVS:
      NC_000012.12:g.52054981T>C, NC_000012.12:g.52054981T>G, NC_000012.11:g.52448765T>C, NC_000012.11:g.52448765T>G, NM_002135.5:c.653T>C, NM_002135.5:c.653T>G, NM_002135.4:c.653T>C, NM_002135.4:c.653T>G, XM_006719364.4:c.653T>C, XM_006719364.4:c.653T>G, XM_005268824.3:c.653T>C, XM_005268824.3:c.653T>G, XM_005268824.1:c.653T>C, XM_005268824.1:c.653T>G, XM_005268822.3:c.869T>C, XM_005268822.3:c.869T>G, XM_005268822.1:c.869T>C, XM_005268822.1:c.869T>G, NM_173157.3:c.653T>C, NM_173157.3:c.653T>G, NM_173157.2:c.653T>C, NM_173157.2:c.653T>G, NM_001202234.2:c.815T>C, NM_001202234.2:c.815T>G, NM_001202234.1:c.815T>C, NM_001202234.1:c.815T>G, NM_001202233.2:c.692T>C, NM_001202233.2:c.692T>G, NM_001202233.1:c.692T>C, NM_001202233.1:c.692T>G, XM_006719363.1:c.653T>C, XM_006719363.1:c.653T>G, XM_017019247.1:c.665T>C, XM_017019247.1:c.665T>G, NM_173158.1:c.653T>C, NM_173158.1:c.653T>G, NP_002126.2:p.Leu218Pro, NP_002126.2:p.Leu218Arg, XP_006719427.1:p.Leu218Pro, XP_006719427.1:p.Leu218Arg, XP_005268881.1:p.Leu218Pro, XP_005268881.1:p.Leu218Arg, XP_005268879.1:p.Leu290Pro, XP_005268879.1:p.Leu290Arg, NP_775180.1:p.Leu218Pro, NP_775180.1:p.Leu218Arg, NP_001189163.1:p.Leu272Pro, NP_001189163.1:p.Leu272Arg, NP_001189162.1:p.Leu231Pro, NP_001189162.1:p.Leu231Arg, XP_006719426.1:p.Leu218Pro, XP_006719426.1:p.Leu218Arg, XP_016874736.1:p.Leu222Pro, XP_016874736.1:p.Leu222Arg
      4.

      rs781159265 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        12:52054683 (GRCh38)
        12:52448467 (GRCh37)
        Canonical SPDI:
        NC_000012.12:52054682:C:G,NC_000012.12:52054682:C:T
        Gene:
        NR4A1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000008/1 (ExAC)
        T=0.000014/2 (GnomAD)
        T=0.000023/6 (TOPMED)
        HGVS:
        NC_000012.12:g.52054683C>G, NC_000012.12:g.52054683C>T, NC_000012.11:g.52448467C>G, NC_000012.11:g.52448467C>T, NM_002135.5:c.355C>G, NM_002135.5:c.355C>T, NM_002135.4:c.355C>G, NM_002135.4:c.355C>T, XM_006719364.4:c.355C>G, XM_006719364.4:c.355C>T, XM_005268824.3:c.355C>G, XM_005268824.3:c.355C>T, XM_005268824.1:c.355C>G, XM_005268824.1:c.355C>T, XM_005268822.3:c.571C>G, XM_005268822.3:c.571C>T, XM_005268822.1:c.571C>G, XM_005268822.1:c.571C>T, NM_173157.3:c.355C>G, NM_173157.3:c.355C>T, NM_173157.2:c.355C>G, NM_173157.2:c.355C>T, NM_001202234.2:c.517C>G, NM_001202234.2:c.517C>T, NM_001202234.1:c.517C>G, NM_001202234.1:c.517C>T, NM_001202233.2:c.394C>G, NM_001202233.2:c.394C>T, NM_001202233.1:c.394C>G, NM_001202233.1:c.394C>T, XM_006719363.1:c.355C>G, XM_006719363.1:c.355C>T, XM_017019247.1:c.367C>G, XM_017019247.1:c.367C>T, NM_173158.1:c.355C>G, NM_173158.1:c.355C>T, NP_002126.2:p.Pro119Ala, NP_002126.2:p.Pro119Ser, XP_006719427.1:p.Pro119Ala, XP_006719427.1:p.Pro119Ser, XP_005268881.1:p.Pro119Ala, XP_005268881.1:p.Pro119Ser, XP_005268879.1:p.Pro191Ala, XP_005268879.1:p.Pro191Ser, NP_775180.1:p.Pro119Ala, NP_775180.1:p.Pro119Ser, NP_001189163.1:p.Pro173Ala, NP_001189163.1:p.Pro173Ser, NP_001189162.1:p.Pro132Ala, NP_001189162.1:p.Pro132Ser, XP_006719426.1:p.Pro119Ala, XP_006719426.1:p.Pro119Ser, XP_016874736.1:p.Pro123Ala, XP_016874736.1:p.Pro123Ser
        5.

        rs781024328 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          12:52058806 (GRCh38)
          12:52452590 (GRCh37)
          Canonical SPDI:
          NC_000012.12:52058805:A:G
          Gene:
          NR4A1 (Varview), NR4A1AS (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000055/2 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (GnomAD_exomes)
          G=0.000009/1 (ExAC)
          G=0.000023/6 (TOPMED)
          G=0.000223/1 (Estonian)
          HGVS:
          6.

          rs780929350 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:52057439 (GRCh38)
            12:52451223 (GRCh37)
            Canonical SPDI:
            NC_000012.12:52057438:T:C
            Gene:
            NR4A1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            C=0.000008/1 (ExAC)
            HGVS:
            7.

            rs780833461 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:52056134 (GRCh38)
              12:52449918 (GRCh37)
              Canonical SPDI:
              NC_000012.12:52056133:C:T
              Gene:
              NR4A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              T=0.000009/1 (ExAC)
              HGVS:
              9.
              10.

              rs780099686 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                12:52054985 (GRCh38)
                12:52448769 (GRCh37)
                Canonical SPDI:
                NC_000012.12:52054984:G:C
                Gene:
                NR4A1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                C=0.000008/1 (ExAC)
                HGVS:
                11.

                rs780069174 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  12:52058736 (GRCh38)
                  12:52452520 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:52058735:G:A,NC_000012.12:52058735:G:T
                  Gene:
                  NR4A1 (Varview), NR4A1AS (Varview)
                  Functional Consequence:
                  500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000203/9 (ALFA)
                  A=0.000053/14 (TOPMED)
                  A=0.000057/8 (GnomAD)
                  HGVS:
                  NC_000012.12:g.52058736G>A, NC_000012.12:g.52058736G>T, NC_000012.11:g.52452520G>A, NC_000012.11:g.52452520G>T, NM_002135.5:c.1589G>A, NM_002135.5:c.1589G>T, NM_002135.4:c.1589G>A, NM_002135.4:c.1589G>T, XM_006719364.4:c.1589G>A, XM_006719364.4:c.1589G>T, XM_005268824.3:c.1589G>A, XM_005268824.3:c.1589G>T, XM_005268824.1:c.1589G>A, XM_005268824.1:c.1589G>T, XM_005268822.3:c.1805G>A, XM_005268822.3:c.1805G>T, XM_005268822.1:c.1805G>A, XM_005268822.1:c.1805G>T, NM_173157.3:c.1589G>A, NM_173157.3:c.1589G>T, NM_173157.2:c.1589G>A, NM_173157.2:c.1589G>T, NM_001202234.2:c.1751G>A, NM_001202234.2:c.1751G>T, NM_001202234.1:c.1751G>A, NM_001202234.1:c.1751G>T, NM_001202233.2:c.1628G>A, NM_001202233.2:c.1628G>T, NM_001202233.1:c.1628G>A, NM_001202233.1:c.1628G>T, XM_006719363.1:c.1589G>A, XM_006719363.1:c.1589G>T, XM_017019247.1:c.1601G>A, XM_017019247.1:c.1601G>T, NP_002126.2:p.Arg530His, NP_002126.2:p.Arg530Leu, XP_006719427.1:p.Arg530His, XP_006719427.1:p.Arg530Leu, XP_005268881.1:p.Arg530His, XP_005268881.1:p.Arg530Leu, XP_005268879.1:p.Arg602His, XP_005268879.1:p.Arg602Leu, NP_775180.1:p.Arg530His, NP_775180.1:p.Arg530Leu, NP_001189163.1:p.Arg584His, NP_001189163.1:p.Arg584Leu, NP_001189162.1:p.Arg543His, NP_001189162.1:p.Arg543Leu, XP_006719426.1:p.Arg530His, XP_006719426.1:p.Arg530Leu, XP_016874736.1:p.Arg534His, XP_016874736.1:p.Arg534Leu
                  13.

                  rs779906785 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:52054379 (GRCh38)
                    12:52448163 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:52054378:C:T
                    Gene:
                    NR4A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000085/3 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000017/2 (ExAC)
                    T=0.00002/5 (GnomAD_exomes)
                    T=0.000023/6 (TOPMED)
                    HGVS:
                    14.
                    15.
                    18.
                    20.

                    rs779214175 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:52058878 (GRCh38)
                      12:52452662 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:52058877:G:A
                      Gene:
                      NR4A1 (Varview), NR4A1AS (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000008/1 (ExAC)
                      A=0.004717/1 (Vietnamese)
                      HGVS:

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