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Links from Protein

Items: 1 to 20 of 260

1.
3.

rs781065279 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    6:32850368 (GRCh38)
    6:32818145 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32850367:G:T
    Gene:
    TAP1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000087/2 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000008/1 (ExAC)
    T=0.000015/4 (TOPMED)
    HGVS:
    4.

    rs781031767 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:32851042 (GRCh38)
      6:32818819 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32851041:C:T
      Gene:
      TAP1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0./0 (ALSPAC)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000009/1 (ExAC)
      T=0.000021/3 (GnomAD)
      T=0.000026/7 (TOPMED)
      T=0.00027/1 (TWINSUK)
      HGVS:
      5.
      7.
      8.

      rs779845052 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:32847202 (GRCh38)
        6:32814979 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32847201:C:T
        Gene:
        TAP1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000016/4 (GnomAD_exomes)
        T=0.000019/5 (TOPMED)
        T=0.000026/3 (ExAC)
        T=0.001134/19 (TOMMO)
        T=0.004673/1 (Vietnamese)
        HGVS:
        9.

        rs779844691 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          6:32850448 (GRCh38)
          6:32818225 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32850447:T:A,NC_000006.12:32850447:T:C
          Gene:
          TAP1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0./0 (ALSPAC)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          A=0.000008/1 (ExAC)
          A=0.00027/1 (TWINSUK)
          HGVS:
          NC_000006.12:g.32850448T>A, NC_000006.12:g.32850448T>C, NC_000006.11:g.32818225T>A, NC_000006.11:g.32818225T>C, NG_011759.1:g.8524A>T, NG_011759.1:g.8524A>G, NM_000593.6:c.1120A>T, NM_000593.6:c.1120A>G, NM_000593.5:c.1300A>T, NM_000593.5:c.1300A>G, NM_001292022.2:c.517A>T, NM_001292022.2:c.517A>G, NM_001292022.1:c.517A>T, NM_001292022.1:c.517A>G, NT_113891.3:g.4262647T>A, NT_113891.3:g.4262647T>C, NT_113891.2:g.4262753T>A, NT_113891.2:g.4262753T>C, NT_167248.2:g.4044736T>A, NT_167248.2:g.4044736T>C, NT_167248.1:g.4050332T>A, NT_167248.1:g.4050332T>C, NT_167246.2:g.4269801T>A, NT_167246.2:g.4269801T>C, NT_167246.1:g.4275421T>A, NT_167246.1:g.4275421T>C, NT_167249.2:g.4249698T>A, NT_167249.2:g.4249698T>C, NT_167249.1:g.4248996T>A, NT_167249.1:g.4248996T>C, NT_167245.2:g.4094016T>A, NT_167245.2:g.4094016T>C, NT_167245.1:g.4099601T>A, NT_167245.1:g.4099601T>C, NT_167244.2:g.4155311T>A, NT_167244.2:g.4155311T>C, NT_167244.1:g.4105227T>A, NT_167244.1:g.4105227T>C, NT_167247.2:g.4149515T>A, NT_167247.2:g.4149515T>C, NT_167247.1:g.4155100T>A, NT_167247.1:g.4155100T>C, NP_000584.3:p.Met374Leu, NP_000584.3:p.Met374Val, NP_001278951.1:p.Met173Leu, NP_001278951.1:p.Met173Val
          10.
          11.

          rs779607865 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:32852135 (GRCh38)
            6:32819912 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32852134:G:A
            Gene:
            TAP1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000009/1 (ExAC)
            A=0.003289/1 (FINRISK)
            HGVS:
            12.

            rs779346609 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              6:32851017 (GRCh38)
              6:32818794 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32851016:G:A,NC_000006.12:32851016:G:T
              Gene:
              TAP1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000056/2 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              T=0.000009/1 (ExAC)
              HGVS:
              NC_000006.12:g.32851017G>A, NC_000006.12:g.32851017G>T, NC_000006.11:g.32818794G>A, NC_000006.11:g.32818794G>T, NG_011759.1:g.7955C>T, NG_011759.1:g.7955C>A, NM_000593.6:c.977C>T, NM_000593.6:c.977C>A, NM_000593.5:c.1157C>T, NM_000593.5:c.1157C>A, NM_001292022.2:c.374C>T, NM_001292022.2:c.374C>A, NM_001292022.1:c.374C>T, NM_001292022.1:c.374C>A, NT_113891.3:g.4263216G>A, NT_113891.3:g.4263216G>T, NT_113891.2:g.4263322G>A, NT_113891.2:g.4263322G>T, NT_167248.2:g.4045305G>A, NT_167248.2:g.4045305G>T, NT_167248.1:g.4050901G>A, NT_167248.1:g.4050901G>T, NT_167246.2:g.4270370G>A, NT_167246.2:g.4270370G>T, NT_167246.1:g.4275990G>A, NT_167246.1:g.4275990G>T, NT_167249.2:g.4250267G>A, NT_167249.2:g.4250267G>T, NT_167249.1:g.4249565G>A, NT_167249.1:g.4249565G>T, NT_167245.2:g.4094585G>A, NT_167245.2:g.4094585G>T, NT_167245.1:g.4100170G>A, NT_167245.1:g.4100170G>T, NT_167244.2:g.4155880G>A, NT_167244.2:g.4155880G>T, NT_167244.1:g.4105796G>A, NT_167244.1:g.4105796G>T, NT_167247.2:g.4150084G>A, NT_167247.2:g.4150084G>T, NT_167247.1:g.4155669G>A, NT_167247.1:g.4155669G>T, NP_000584.3:p.Ser326Phe, NP_000584.3:p.Ser326Tyr, NP_001278951.1:p.Ser125Phe, NP_001278951.1:p.Ser125Tyr
              13.

              rs779306745 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:32851135 (GRCh38)
                6:32818912 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32851134:G:A
                Gene:
                TAP1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000087/2 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000014/2 (GnomAD)
                A=0.000016/4 (GnomAD_exomes)
                A=0.000017/2 (ExAC)
                HGVS:
                14.

                rs778935373 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:32848073 (GRCh38)
                  6:32815850 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32848072:C:T
                  Gene:
                  TAP1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.00013/3 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  T=0.000013/1 (ExAC)
                  T=0.00003/7 (GnomAD_exomes)
                  C=0.5/1 (SGDP_PRJ)
                  HGVS:
                  15.

                  rs778774698 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    6:32848768 (GRCh38)
                    6:32816545 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32848767:G:A,NC_000006.12:32848767:G:T
                    Gene:
                    TAP1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000043/1 (ALFA)
                    A=0.000016/2 (ExAC)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000006.12:g.32848768G>A, NC_000006.12:g.32848768G>T, NC_000006.11:g.32816545G>A, NC_000006.11:g.32816545G>T, NG_011759.1:g.10204C>T, NG_011759.1:g.10204C>A, NM_000593.6:c.1450C>T, NM_000593.6:c.1450C>A, NM_000593.5:c.1630C>T, NM_000593.5:c.1630C>A, NM_001292022.2:c.847C>T, NM_001292022.2:c.847C>A, NM_001292022.1:c.847C>T, NM_001292022.1:c.847C>A, NG_028165.1:g.1168C>T, NG_028165.1:g.1168C>A, NT_113891.3:g.4260967G>A, NT_113891.3:g.4260967G>T, NT_113891.2:g.4261073G>A, NT_113891.2:g.4261073G>T, NT_167248.2:g.4043056G>A, NT_167248.2:g.4043056G>T, NT_167248.1:g.4048652G>A, NT_167248.1:g.4048652G>T, NT_167246.2:g.4268121G>A, NT_167246.2:g.4268121G>T, NT_167246.1:g.4273741G>A, NT_167246.1:g.4273741G>T, NT_167249.2:g.4248020G>A, NT_167249.2:g.4248020G>T, NT_167249.1:g.4247318G>A, NT_167249.1:g.4247318G>T, NT_167245.2:g.4092338G>A, NT_167245.2:g.4092338G>T, NT_167245.1:g.4097923G>A, NT_167245.1:g.4097923G>T, NT_167244.2:g.4153633G>A, NT_167244.2:g.4153633G>T, NT_167244.1:g.4103549G>A, NT_167244.1:g.4103549G>T, NT_167247.2:g.4147837G>A, NT_167247.2:g.4147837G>T, NT_167247.1:g.4153422G>A, NT_167247.1:g.4153422G>T, NP_000584.3:p.Arg484Cys, NP_000584.3:p.Arg484Ser, NP_001278951.1:p.Arg283Cys, NP_001278951.1:p.Arg283Ser
                    16.
                    17.

                    rs778175475 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:32848078 (GRCh38)
                      6:32815855 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32848077:G:A
                      Gene:
                      TAP1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000013/3 (GnomAD_exomes)
                      A=0.000028/2 (ExAC)
                      A=0.00005/7 (GnomAD)
                      A=0.000068/18 (TOPMED)
                      HGVS:
                      20.

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