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Items: 1 to 20 of 1000

1.

rs1490625243 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:28196274 (GRCh38)
    15:28441420 (GRCh37)
    Canonical SPDI:
    NC_000015.10:28196273:G:A
    Gene:
    HERC2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000005/1 (GnomAD_exomes)
    A=0.000212/4 (TOMMO)
    HGVS:
    NC_000015.10:g.28196274G>A, NC_000015.9:g.28441420G>A, NG_016355.1:g.130876C>T, NM_004667.6:c.8201C>T, NM_004667.5:c.8201C>T, NW_011332701.1:g.329715G>A, XM_005268276.6:c.8087C>T, XM_005268276.5:c.8087C>T, XM_005268276.4:c.8087C>T, XM_005268276.3:c.8087C>T, XM_005268276.2:c.8087C>T, XM_005268276.1:c.8087C>T, XM_006720726.4:c.8186C>T, XM_006720726.3:c.8186C>T, XM_006720726.2:c.8186C>T, XM_006720726.1:c.8186C>T, XM_006720727.4:c.7943C>T, XM_006720727.3:c.7943C>T, XM_006720727.2:c.7943C>T, XM_006720727.1:c.7943C>T, XM_017022696.2:c.8087C>T, XM_017022696.1:c.8087C>T, XM_017022697.2:c.1367C>T, XM_017022697.1:c.1367C>T, XM_017022698.2:c.1367C>T, XM_017022698.1:c.1367C>T, XM_017022695.1:c.8087C>T, XM_047433206.1:c.8174C>T, XM_047433207.1:c.7718C>T, XM_047433208.1:c.8201C>T, XM_047433209.1:c.8092C>T, NP_004658.3:p.Thr2734Met, XP_005268333.1:p.Thr2696Met, XP_006720789.1:p.Thr2729Met, XP_006720790.1:p.Thr2648Met, XP_016878185.1:p.Thr2696Met, XP_016878186.1:p.Thr456Met, XP_016878187.1:p.Thr456Met, XP_016878184.1:p.Thr2696Met, XP_047289162.1:p.Thr2725Met, XP_047289163.1:p.Thr2573Met, XP_047289164.1:p.Thr2734Met, XP_047289165.1:p.Arg2698Cys

    2.

    rs1490491189 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:28246038 (GRCh38)
      15:28491184 (GRCh37)
      Canonical SPDI:
      NC_000015.10:28246037:A:G
      Gene:
      HERC2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1490230336 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:28229283 (GRCh38)
        15:28474429 (GRCh37)
        Canonical SPDI:
        NC_000015.10:28229282:C:T
        Gene:
        HERC2 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1490159101 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:28191233 (GRCh38)
          15:28436379 (GRCh37)
          Canonical SPDI:
          NC_000015.10:28191232:A:G
          Gene:
          HERC2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.28191233A>G, NC_000015.9:g.28436379A>G, NG_016355.1:g.135917T>C, NM_004667.6:c.8463T>C, NM_004667.5:c.8463T>C, NW_011332701.1:g.324674A>G, NT_187660.1:g.324674A>G, XM_005268276.6:c.8349T>C, XM_005268276.5:c.8349T>C, XM_005268276.4:c.8349T>C, XM_005268276.3:c.8349T>C, XM_005268276.2:c.8349T>C, XM_005268276.1:c.8349T>C, XM_006720726.4:c.8448T>C, XM_006720726.3:c.8448T>C, XM_006720726.2:c.8448T>C, XM_006720726.1:c.8448T>C, XM_017022696.2:c.8349T>C, XM_017022696.1:c.8349T>C, XM_017022697.2:c.1629T>C, XM_017022697.1:c.1629T>C, XM_017022698.2:c.1629T>C, XM_017022698.1:c.1629T>C, XM_006720727.4:c.8205T>C, XM_006720727.3:c.8205T>C, XM_006720727.2:c.8205T>C, XM_006720727.1:c.8205T>C, XM_017022695.1:c.8349T>C, XM_047433206.1:c.8436T>C, XM_047433207.1:c.7980T>C, XM_047433208.1:c.8463T>C

          5.

          rs1489780298 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:28272250 (GRCh38)
            15:28517396 (GRCh37)
            Canonical SPDI:
            NC_000015.10:28272249:T:C
            Gene:
            HERC2 (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.28272250T>C, NC_000015.9:g.28517396T>C, NG_016355.1:g.54900A>G, NM_004667.6:c.1048A>G, NM_004667.5:c.1048A>G, NW_011332701.1:g.405695T>C, NT_187660.1:g.519481T>C, XM_005268276.6:c.934A>G, XM_005268276.5:c.934A>G, XM_005268276.4:c.934A>G, XM_005268276.3:c.934A>G, XM_005268276.2:c.934A>G, XM_005268276.1:c.934A>G, XM_006720726.4:c.1048A>G, XM_006720726.3:c.1048A>G, XM_006720726.2:c.1048A>G, XM_006720726.1:c.1048A>G, XM_006720727.4:c.790A>G, XM_006720727.3:c.790A>G, XM_006720727.2:c.790A>G, XM_006720727.1:c.790A>G, XM_047433206.1:c.1021A>G, XM_017022695.1:c.934A>G, XM_047433207.1:c.565A>G, XM_017022696.2:c.934A>G, XM_017022696.1:c.934A>G, XM_047433208.1:c.1048A>G, XM_047433209.1:c.1048A>G, NP_004658.3:p.Arg350Gly, XP_005268333.1:p.Arg312Gly, XP_006720789.1:p.Arg350Gly, XP_006720790.1:p.Arg264Gly, XP_047289162.1:p.Arg341Gly, XP_016878184.1:p.Arg312Gly, XP_047289163.1:p.Arg189Gly, XP_016878185.1:p.Arg312Gly, XP_047289164.1:p.Arg350Gly, XP_047289165.1:p.Arg350Gly

            6.

            rs1489580265 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:28142876 (GRCh38)
              15:28388022 (GRCh37)
              Canonical SPDI:
              NC_000015.10:28142875:T:C
              Gene:
              HERC2 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000015.10:g.28142876T>C, NC_000015.9:g.28388022T>C, NG_016355.1:g.184274A>G, NM_004667.6:c.11495A>G, NM_004667.5:c.11495A>G, NW_011332701.1:g.276318T>C, NT_187660.1:g.276318T>C, XM_005268276.6:c.11381A>G, XM_005268276.5:c.11381A>G, XM_005268276.4:c.11381A>G, XM_005268276.3:c.11381A>G, XM_005268276.2:c.11381A>G, XM_005268276.1:c.11381A>G, XM_006720726.4:c.11480A>G, XM_006720726.3:c.11480A>G, XM_006720726.2:c.11480A>G, XM_006720726.1:c.11480A>G, XM_006720727.4:c.11237A>G, XM_006720727.3:c.11237A>G, XM_006720727.2:c.11237A>G, XM_006720727.1:c.11237A>G, XM_017022698.2:c.4661A>G, XM_017022698.1:c.4661A>G, XM_017022697.2:c.4661A>G, XM_017022697.1:c.4661A>G, XM_017022696.2:c.11381A>G, XM_017022696.1:c.11381A>G, XM_017022695.1:c.11381A>G, XM_047433206.1:c.11468A>G, XM_047433207.1:c.11012A>G, NP_004658.3:p.Asp3832Gly, XP_005268333.1:p.Asp3794Gly, XP_006720789.1:p.Asp3827Gly, XP_006720790.1:p.Asp3746Gly, XP_016878187.1:p.Asp1554Gly, XP_016878186.1:p.Asp1554Gly, XP_016878185.1:p.Asp3794Gly, XP_016878184.1:p.Asp3794Gly, XP_047289162.1:p.Asp3823Gly, XP_047289163.1:p.Asp3671Gly

              7.

              rs1489517651 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                15:28202169 (GRCh38)
                15:28447315 (GRCh37)
                Canonical SPDI:
                NC_000015.10:28202168:C:T
                Gene:
                HERC2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000106/2 (TOMMO)
                HGVS:
                NC_000015.10:g.28202169C>T, NC_000015.9:g.28447315C>T, NG_016355.1:g.124981G>A, NM_004667.6:c.7561G>A, NM_004667.5:c.7561G>A, NW_011332701.1:g.335610C>T, XM_005268276.6:c.7447G>A, XM_005268276.5:c.7447G>A, XM_005268276.4:c.7447G>A, XM_005268276.3:c.7447G>A, XM_005268276.2:c.7447G>A, XM_005268276.1:c.7447G>A, XM_006720726.4:c.7546G>A, XM_006720726.3:c.7546G>A, XM_006720726.2:c.7546G>A, XM_006720726.1:c.7546G>A, XM_006720727.4:c.7303G>A, XM_006720727.3:c.7303G>A, XM_006720727.2:c.7303G>A, XM_006720727.1:c.7303G>A, XM_017022696.2:c.7447G>A, XM_017022696.1:c.7447G>A, XM_017022697.2:c.727G>A, XM_017022697.1:c.727G>A, XM_017022698.2:c.727G>A, XM_017022698.1:c.727G>A, XM_017022695.1:c.7447G>A, XM_047433206.1:c.7534G>A, XM_047433207.1:c.7078G>A, XM_047433208.1:c.7561G>A, XM_047433209.1:c.7561G>A, NP_004658.3:p.Asp2521Asn, XP_005268333.1:p.Asp2483Asn, XP_006720789.1:p.Asp2516Asn, XP_006720790.1:p.Asp2435Asn, XP_016878185.1:p.Asp2483Asn, XP_016878186.1:p.Asp243Asn, XP_016878187.1:p.Asp243Asn, XP_016878184.1:p.Asp2483Asn, XP_047289162.1:p.Asp2512Asn, XP_047289163.1:p.Asp2360Asn, XP_047289164.1:p.Asp2521Asn, XP_047289165.1:p.Asp2521Asn

                8.

                rs1489480716 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  15:28130223 (GRCh38)
                  15:28375369 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:28130222:C:G
                  Gene:
                  HERC2 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000177/3 (TOMMO)
                  HGVS:
                  NC_000015.10:g.28130223C>G, NC_000015.9:g.28375369C>G, NG_016355.1:g.196927G>C, NM_004667.6:c.12742G>C, NM_004667.5:c.12742G>C, NW_011332701.1:g.263662C>G, NT_187660.1:g.263662C>G, XM_005268276.6:c.12628G>C, XM_005268276.5:c.12628G>C, XM_005268276.4:c.12628G>C, XM_005268276.3:c.12628G>C, XM_005268276.2:c.12628G>C, XM_005268276.1:c.12628G>C, XM_006720726.4:c.12727G>C, XM_006720726.3:c.12727G>C, XM_006720726.2:c.12727G>C, XM_006720726.1:c.12727G>C, XM_006720727.4:c.12484G>C, XM_006720727.3:c.12484G>C, XM_006720727.2:c.12484G>C, XM_006720727.1:c.12484G>C, XM_017022698.2:c.5908G>C, XM_017022698.1:c.5908G>C, XM_017022697.2:c.5908G>C, XM_017022697.1:c.5908G>C, XM_017022696.2:c.12628G>C, XM_017022696.1:c.12628G>C, XM_017022695.1:c.12628G>C, XM_047433206.1:c.12715G>C, XM_047433207.1:c.12259G>C, NP_004658.3:p.Gly4248Arg, XP_005268333.1:p.Gly4210Arg, XP_006720789.1:p.Gly4243Arg, XP_006720790.1:p.Gly4162Arg, XP_016878187.1:p.Gly1970Arg, XP_016878186.1:p.Gly1970Arg, XP_016878185.1:p.Gly4210Arg, XP_016878184.1:p.Gly4210Arg, XP_047289162.1:p.Gly4239Arg, XP_047289163.1:p.Gly4087Arg

                  9.

                  rs1489389816 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:28233300 (GRCh38)
                    15:28478446 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:28233299:A:G
                    Gene:
                    HERC2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1489133767 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      15:28256170 (GRCh38)
                      15:28501316 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:28256169:C:A,NC_000015.10:28256169:C:T
                      Gene:
                      HERC2 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000015.10:g.28256170C>A, NC_000015.10:g.28256170C>T, NC_000015.9:g.28501316C>A, NC_000015.9:g.28501316C>T, NG_016355.1:g.70980G>T, NG_016355.1:g.70980G>A, NM_004667.6:c.2665G>T, NM_004667.6:c.2665G>A, NM_004667.5:c.2665G>T, NM_004667.5:c.2665G>A, NW_011332701.1:g.389615C>A, NW_011332701.1:g.389615C>T, NT_187660.1:g.503401C>A, NT_187660.1:g.503401C>T, XM_005268276.6:c.2551G>T, XM_005268276.6:c.2551G>A, XM_005268276.5:c.2551G>T, XM_005268276.5:c.2551G>A, XM_005268276.4:c.2551G>T, XM_005268276.4:c.2551G>A, XM_005268276.3:c.2551G>T, XM_005268276.3:c.2551G>A, XM_005268276.2:c.2551G>T, XM_005268276.2:c.2551G>A, XM_005268276.1:c.2551G>T, XM_005268276.1:c.2551G>A, XM_006720726.4:c.2665G>T, XM_006720726.4:c.2665G>A, XM_006720726.3:c.2665G>T, XM_006720726.3:c.2665G>A, XM_006720726.2:c.2665G>T, XM_006720726.2:c.2665G>A, XM_006720726.1:c.2665G>T, XM_006720726.1:c.2665G>A, XM_006720727.4:c.2407G>T, XM_006720727.4:c.2407G>A, XM_006720727.3:c.2407G>T, XM_006720727.3:c.2407G>A, XM_006720727.2:c.2407G>T, XM_006720727.2:c.2407G>A, XM_006720727.1:c.2407G>T, XM_006720727.1:c.2407G>A, XM_047433206.1:c.2638G>T, XM_047433206.1:c.2638G>A, XM_017022695.1:c.2551G>T, XM_017022695.1:c.2551G>A, XM_047433207.1:c.2182G>T, XM_047433207.1:c.2182G>A, XM_017022696.2:c.2551G>T, XM_017022696.2:c.2551G>A, XM_017022696.1:c.2551G>T, XM_017022696.1:c.2551G>A, XM_047433208.1:c.2665G>T, XM_047433208.1:c.2665G>A, XM_047433209.1:c.2665G>T, XM_047433209.1:c.2665G>A, NP_004658.3:p.Val889Leu, NP_004658.3:p.Val889Met, XP_005268333.1:p.Val851Leu, XP_005268333.1:p.Val851Met, XP_006720789.1:p.Val889Leu, XP_006720789.1:p.Val889Met, XP_006720790.1:p.Val803Leu, XP_006720790.1:p.Val803Met, XP_047289162.1:p.Val880Leu, XP_047289162.1:p.Val880Met, XP_016878184.1:p.Val851Leu, XP_016878184.1:p.Val851Met, XP_047289163.1:p.Val728Leu, XP_047289163.1:p.Val728Met, XP_016878185.1:p.Val851Leu, XP_016878185.1:p.Val851Met, XP_047289164.1:p.Val889Leu, XP_047289164.1:p.Val889Met, XP_047289165.1:p.Val889Leu, XP_047289165.1:p.Val889Met

                      11.

                      rs1488977088 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:28213810 (GRCh38)
                        15:28458956 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:28213809:C:T
                        Gene:
                        HERC2 (Varview)
                        Functional Consequence:
                        missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000015.10:g.28213810C>T, NC_000015.9:g.28458956C>T, NG_016355.1:g.113340G>A, NM_004667.6:c.6718G>A, NM_004667.5:c.6718G>A, NW_011332701.1:g.347272C>T, XM_005268276.6:c.6604G>A, XM_005268276.5:c.6604G>A, XM_005268276.4:c.6604G>A, XM_005268276.3:c.6604G>A, XM_005268276.2:c.6604G>A, XM_005268276.1:c.6604G>A, XM_006720726.4:c.6703G>A, XM_006720726.3:c.6703G>A, XM_006720726.2:c.6703G>A, XM_006720726.1:c.6703G>A, XM_006720727.4:c.6460G>A, XM_006720727.3:c.6460G>A, XM_006720727.2:c.6460G>A, XM_006720727.1:c.6460G>A, XM_047433206.1:c.6691G>A, XM_017022695.1:c.6604G>A, XM_047433207.1:c.6235G>A, XM_017022696.2:c.6604G>A, XM_017022696.1:c.6604G>A, XM_047433208.1:c.6718G>A, XM_047433209.1:c.6718G>A, NP_004658.3:p.Gly2240Ser, XP_005268333.1:p.Gly2202Ser, XP_006720789.1:p.Gly2235Ser, XP_006720790.1:p.Gly2154Ser, XP_047289162.1:p.Gly2231Ser, XP_016878184.1:p.Gly2202Ser, XP_047289163.1:p.Gly2079Ser, XP_016878185.1:p.Gly2202Ser, XP_047289164.1:p.Gly2240Ser, XP_047289165.1:p.Gly2240Ser

                        12.

                        rs1488858897 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:28182424 (GRCh38)
                          15:28427570 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:28182423:G:A
                          Gene:
                          HERC2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000015.10:g.28182424G>A, NC_000015.9:g.28427570G>A, NG_016355.1:g.144726C>T, NM_004667.6:c.8914C>T, NM_004667.5:c.8914C>T, NW_011332701.1:g.315865G>A, NT_187660.1:g.315865G>A, XM_005268276.6:c.8800C>T, XM_005268276.5:c.8800C>T, XM_005268276.4:c.8800C>T, XM_005268276.3:c.8800C>T, XM_005268276.2:c.8800C>T, XM_005268276.1:c.8800C>T, XM_006720726.4:c.8899C>T, XM_006720726.3:c.8899C>T, XM_006720726.2:c.8899C>T, XM_006720726.1:c.8899C>T, XM_017022696.2:c.8800C>T, XM_017022696.1:c.8800C>T, XM_017022697.2:c.2080C>T, XM_017022697.1:c.2080C>T, XM_017022698.2:c.2080C>T, XM_017022698.1:c.2080C>T, XM_006720727.4:c.8656C>T, XM_006720727.3:c.8656C>T, XM_006720727.2:c.8656C>T, XM_006720727.1:c.8656C>T, XM_017022695.1:c.8800C>T, XM_047433206.1:c.8887C>T, XM_047433207.1:c.8431C>T, XM_047433208.1:c.8914C>T

                          13.

                          rs1488786033 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:28125101 (GRCh38)
                            15:28370247 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:28125100:G:A,NC_000015.10:28125100:G:T
                            Gene:
                            HERC2 (Varview)
                            Functional Consequence:
                            stop_gained,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000015.10:g.28125101G>A, NC_000015.10:g.28125101G>T, NC_000015.9:g.28370247G>A, NC_000015.9:g.28370247G>T, NG_016355.1:g.202049C>T, NG_016355.1:g.202049C>A, NM_004667.6:c.12895C>T, NM_004667.6:c.12895C>A, NM_004667.5:c.12895C>T, NM_004667.5:c.12895C>A, NW_011332701.1:g.258538G>A, NW_011332701.1:g.258538G>T, NT_187660.1:g.258538G>A, NT_187660.1:g.258538G>T, XM_005268276.6:c.12781C>T, XM_005268276.6:c.12781C>A, XM_005268276.5:c.12781C>T, XM_005268276.5:c.12781C>A, XM_005268276.4:c.12781C>T, XM_005268276.4:c.12781C>A, XM_005268276.3:c.12781C>T, XM_005268276.3:c.12781C>A, XM_005268276.2:c.12781C>T, XM_005268276.2:c.12781C>A, XM_005268276.1:c.12781C>T, XM_005268276.1:c.12781C>A, XM_006720726.4:c.12880C>T, XM_006720726.4:c.12880C>A, XM_006720726.3:c.12880C>T, XM_006720726.3:c.12880C>A, XM_006720726.2:c.12880C>T, XM_006720726.2:c.12880C>A, XM_006720726.1:c.12880C>T, XM_006720726.1:c.12880C>A, XM_006720727.4:c.12637C>T, XM_006720727.4:c.12637C>A, XM_006720727.3:c.12637C>T, XM_006720727.3:c.12637C>A, XM_006720727.2:c.12637C>T, XM_006720727.2:c.12637C>A, XM_006720727.1:c.12637C>T, XM_006720727.1:c.12637C>A, XM_017022698.2:c.6061C>T, XM_017022698.2:c.6061C>A, XM_017022698.1:c.6061C>T, XM_017022698.1:c.6061C>A, XM_017022697.2:c.6061C>T, XM_017022697.2:c.6061C>A, XM_017022697.1:c.6061C>T, XM_017022697.1:c.6061C>A, XM_017022696.2:c.12781C>T, XM_017022696.2:c.12781C>A, XM_017022696.1:c.12781C>T, XM_017022696.1:c.12781C>A, XM_017022695.1:c.12781C>T, XM_017022695.1:c.12781C>A, XM_047433206.1:c.12868C>T, XM_047433206.1:c.12868C>A, XM_047433207.1:c.12412C>T, XM_047433207.1:c.12412C>A, NP_004658.3:p.Gln4299Ter, NP_004658.3:p.Gln4299Lys, XP_005268333.1:p.Gln4261Ter, XP_005268333.1:p.Gln4261Lys, XP_006720789.1:p.Gln4294Ter, XP_006720789.1:p.Gln4294Lys, XP_006720790.1:p.Gln4213Ter, XP_006720790.1:p.Gln4213Lys, XP_016878187.1:p.Gln2021Ter, XP_016878187.1:p.Gln2021Lys, XP_016878186.1:p.Gln2021Ter, XP_016878186.1:p.Gln2021Lys, XP_016878185.1:p.Gln4261Ter, XP_016878185.1:p.Gln4261Lys, XP_016878184.1:p.Gln4261Ter, XP_016878184.1:p.Gln4261Lys, XP_047289162.1:p.Gln4290Ter, XP_047289162.1:p.Gln4290Lys, XP_047289163.1:p.Gln4138Ter, XP_047289163.1:p.Gln4138Lys

                            14.

                            rs1488635360 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              15:28233703 (GRCh38)
                              15:28478849 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:28233702:G:A,NC_000015.10:28233702:G:T
                              Gene:
                              HERC2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000015.10:g.28233703G>A, NC_000015.10:g.28233703G>T, NC_000015.9:g.28478849G>A, NC_000015.9:g.28478849G>T, NG_016355.1:g.93447C>T, NG_016355.1:g.93447C>A, NM_004667.6:c.4312C>T, NM_004667.6:c.4312C>A, NM_004667.5:c.4312C>T, NM_004667.5:c.4312C>A, NW_011332701.1:g.367165G>A, NW_011332701.1:g.367165G>T, XM_005268276.6:c.4198C>T, XM_005268276.6:c.4198C>A, XM_005268276.5:c.4198C>T, XM_005268276.5:c.4198C>A, XM_005268276.4:c.4198C>T, XM_005268276.4:c.4198C>A, XM_005268276.3:c.4198C>T, XM_005268276.3:c.4198C>A, XM_005268276.2:c.4198C>T, XM_005268276.2:c.4198C>A, XM_005268276.1:c.4198C>T, XM_005268276.1:c.4198C>A, XM_006720726.4:c.4297C>T, XM_006720726.4:c.4297C>A, XM_006720726.3:c.4297C>T, XM_006720726.3:c.4297C>A, XM_006720726.2:c.4297C>T, XM_006720726.2:c.4297C>A, XM_006720726.1:c.4297C>T, XM_006720726.1:c.4297C>A, XM_006720727.4:c.4054C>T, XM_006720727.4:c.4054C>A, XM_006720727.3:c.4054C>T, XM_006720727.3:c.4054C>A, XM_006720727.2:c.4054C>T, XM_006720727.2:c.4054C>A, XM_006720727.1:c.4054C>T, XM_006720727.1:c.4054C>A, XM_047433206.1:c.4285C>T, XM_047433206.1:c.4285C>A, XM_017022695.1:c.4198C>T, XM_017022695.1:c.4198C>A, XM_047433207.1:c.3829C>T, XM_047433207.1:c.3829C>A, XM_017022696.2:c.4198C>T, XM_017022696.2:c.4198C>A, XM_017022696.1:c.4198C>T, XM_017022696.1:c.4198C>A, XM_047433208.1:c.4312C>T, XM_047433208.1:c.4312C>A, XM_047433209.1:c.4312C>T, XM_047433209.1:c.4312C>A, NP_004658.3:p.Arg1438Cys, NP_004658.3:p.Arg1438Ser, XP_005268333.1:p.Arg1400Cys, XP_005268333.1:p.Arg1400Ser, XP_006720789.1:p.Arg1433Cys, XP_006720789.1:p.Arg1433Ser, XP_006720790.1:p.Arg1352Cys, XP_006720790.1:p.Arg1352Ser, XP_047289162.1:p.Arg1429Cys, XP_047289162.1:p.Arg1429Ser, XP_016878184.1:p.Arg1400Cys, XP_016878184.1:p.Arg1400Ser, XP_047289163.1:p.Arg1277Cys, XP_047289163.1:p.Arg1277Ser, XP_016878185.1:p.Arg1400Cys, XP_016878185.1:p.Arg1400Ser, XP_047289164.1:p.Arg1438Cys, XP_047289164.1:p.Arg1438Ser, XP_047289165.1:p.Arg1438Cys, XP_047289165.1:p.Arg1438Ser

                              15.

                              rs1488363992 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                15:28220497 (GRCh38)
                                15:28465643 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:28220496:C:G,NC_000015.10:28220496:C:T
                                Gene:
                                HERC2 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000015.10:g.28220497C>G, NC_000015.10:g.28220497C>T, NC_000015.9:g.28465643C>G, NC_000015.9:g.28465643C>T, NG_016355.1:g.106653G>C, NG_016355.1:g.106653G>A, NM_004667.6:c.5800G>C, NM_004667.6:c.5800G>A, NM_004667.5:c.5800G>C, NM_004667.5:c.5800G>A, NW_011332701.1:g.353959C>G, NW_011332701.1:g.353959C>T, XM_005268276.6:c.5686G>C, XM_005268276.6:c.5686G>A, XM_005268276.5:c.5686G>C, XM_005268276.5:c.5686G>A, XM_005268276.4:c.5686G>C, XM_005268276.4:c.5686G>A, XM_005268276.3:c.5686G>C, XM_005268276.3:c.5686G>A, XM_005268276.2:c.5686G>C, XM_005268276.2:c.5686G>A, XM_005268276.1:c.5686G>C, XM_005268276.1:c.5686G>A, XM_006720726.4:c.5785G>C, XM_006720726.4:c.5785G>A, XM_006720726.3:c.5785G>C, XM_006720726.3:c.5785G>A, XM_006720726.2:c.5785G>C, XM_006720726.2:c.5785G>A, XM_006720726.1:c.5785G>C, XM_006720726.1:c.5785G>A, XM_006720727.4:c.5542G>C, XM_006720727.4:c.5542G>A, XM_006720727.3:c.5542G>C, XM_006720727.3:c.5542G>A, XM_006720727.2:c.5542G>C, XM_006720727.2:c.5542G>A, XM_006720727.1:c.5542G>C, XM_006720727.1:c.5542G>A, XM_047433206.1:c.5773G>C, XM_047433206.1:c.5773G>A, XM_017022695.1:c.5686G>C, XM_017022695.1:c.5686G>A, XM_047433207.1:c.5317G>C, XM_047433207.1:c.5317G>A, XM_017022696.2:c.5686G>C, XM_017022696.2:c.5686G>A, XM_017022696.1:c.5686G>C, XM_017022696.1:c.5686G>A, XM_047433208.1:c.5800G>C, XM_047433208.1:c.5800G>A, XM_047433209.1:c.5800G>C, XM_047433209.1:c.5800G>A, NP_004658.3:p.Ala1934Pro, NP_004658.3:p.Ala1934Thr, XP_005268333.1:p.Ala1896Pro, XP_005268333.1:p.Ala1896Thr, XP_006720789.1:p.Ala1929Pro, XP_006720789.1:p.Ala1929Thr, XP_006720790.1:p.Ala1848Pro, XP_006720790.1:p.Ala1848Thr, XP_047289162.1:p.Ala1925Pro, XP_047289162.1:p.Ala1925Thr, XP_016878184.1:p.Ala1896Pro, XP_016878184.1:p.Ala1896Thr, XP_047289163.1:p.Ala1773Pro, XP_047289163.1:p.Ala1773Thr, XP_016878185.1:p.Ala1896Pro, XP_016878185.1:p.Ala1896Thr, XP_047289164.1:p.Ala1934Pro, XP_047289164.1:p.Ala1934Thr, XP_047289165.1:p.Ala1934Pro, XP_047289165.1:p.Ala1934Thr

                                16.

                                rs1487623007 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:28115458 (GRCh38)
                                  15:28360604 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:28115457:T:C
                                  Gene:
                                  HERC2 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.28115458T>C, NC_000015.9:g.28360604T>C, NG_016355.1:g.211692A>G, NM_004667.6:c.13693A>G, NM_004667.5:c.13693A>G, NW_011332701.1:g.248924T>C, NT_187660.1:g.248924T>C, XM_005268276.6:c.13579A>G, XM_005268276.5:c.13579A>G, XM_005268276.4:c.13579A>G, XM_005268276.3:c.13579A>G, XM_005268276.2:c.13579A>G, XM_005268276.1:c.13579A>G, XM_006720726.4:c.13678A>G, XM_006720726.3:c.13678A>G, XM_006720726.2:c.13678A>G, XM_006720726.1:c.13678A>G, XM_006720727.4:c.13435A>G, XM_006720727.3:c.13435A>G, XM_006720727.2:c.13435A>G, XM_006720727.1:c.13435A>G, XM_017022698.2:c.6859A>G, XM_017022698.1:c.6859A>G, XM_017022697.2:c.6859A>G, XM_017022697.1:c.6859A>G, XM_017022696.2:c.13579A>G, XM_017022696.1:c.13579A>G, XM_017022695.1:c.13579A>G, XM_047433206.1:c.13666A>G, XM_047433207.1:c.13210A>G, NP_004658.3:p.Met4565Val, XP_005268333.1:p.Met4527Val, XP_006720789.1:p.Met4560Val, XP_006720790.1:p.Met4479Val, XP_016878187.1:p.Met2287Val, XP_016878186.1:p.Met2287Val, XP_016878185.1:p.Met4527Val, XP_016878184.1:p.Met4527Val, XP_047289162.1:p.Met4556Val, XP_047289163.1:p.Met4404Val

                                  17.

                                  rs1487573150 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:28206325 (GRCh38)
                                    15:28451471 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:28206324:G:A
                                    Gene:
                                    HERC2 (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=0.000021/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.28206325G>A, NC_000015.9:g.28451471G>A, NG_016355.1:g.120825C>T, NM_004667.6:c.7127C>T, NM_004667.5:c.7127C>T, NW_011332701.1:g.339793G>A, XM_005268276.6:c.7013C>T, XM_005268276.5:c.7013C>T, XM_005268276.4:c.7013C>T, XM_005268276.3:c.7013C>T, XM_005268276.2:c.7013C>T, XM_005268276.1:c.7013C>T, XM_006720726.4:c.7112C>T, XM_006720726.3:c.7112C>T, XM_006720726.2:c.7112C>T, XM_006720726.1:c.7112C>T, XM_006720727.4:c.6869C>T, XM_006720727.3:c.6869C>T, XM_006720727.2:c.6869C>T, XM_006720727.1:c.6869C>T, XM_017022696.2:c.7013C>T, XM_017022696.1:c.7013C>T, XM_017022697.2:c.293C>T, XM_017022697.1:c.293C>T, XM_017022698.2:c.293C>T, XM_017022698.1:c.293C>T, XM_017022695.1:c.7013C>T, XM_047433206.1:c.7100C>T, XM_047433207.1:c.6644C>T, XM_047433208.1:c.7127C>T, XM_047433209.1:c.7127C>T, NP_004658.3:p.Pro2376Leu, XP_005268333.1:p.Pro2338Leu, XP_006720789.1:p.Pro2371Leu, XP_006720790.1:p.Pro2290Leu, XP_016878185.1:p.Pro2338Leu, XP_016878186.1:p.Pro98Leu, XP_016878187.1:p.Pro98Leu, XP_016878184.1:p.Pro2338Leu, XP_047289162.1:p.Pro2367Leu, XP_047289163.1:p.Pro2215Leu, XP_047289164.1:p.Pro2376Leu, XP_047289165.1:p.Pro2376Leu

                                    18.

                                    rs1487382208 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:28222127 (GRCh38)
                                      15:28467273 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:28222126:C:T
                                      Gene:
                                      HERC2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1487318843 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:28228248 (GRCh38)
                                        15:28473394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:28228247:C:T
                                        Gene:
                                        HERC2 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000015.10:g.28228248C>T, NC_000015.9:g.28473394C>T, NG_016355.1:g.98902G>A, NM_004667.6:c.5434G>A, NM_004667.5:c.5434G>A, NW_011332701.1:g.361710C>T, XM_005268276.6:c.5320G>A, XM_005268276.5:c.5320G>A, XM_005268276.4:c.5320G>A, XM_005268276.3:c.5320G>A, XM_005268276.2:c.5320G>A, XM_005268276.1:c.5320G>A, XM_006720726.4:c.5419G>A, XM_006720726.3:c.5419G>A, XM_006720726.2:c.5419G>A, XM_006720726.1:c.5419G>A, XM_006720727.4:c.5176G>A, XM_006720727.3:c.5176G>A, XM_006720727.2:c.5176G>A, XM_006720727.1:c.5176G>A, XM_047433206.1:c.5407G>A, XM_017022695.1:c.5320G>A, XM_047433207.1:c.4951G>A, XM_017022696.2:c.5320G>A, XM_017022696.1:c.5320G>A, XM_047433208.1:c.5434G>A, XM_047433209.1:c.5434G>A, NP_004658.3:p.Ala1812Thr, XP_005268333.1:p.Ala1774Thr, XP_006720789.1:p.Ala1807Thr, XP_006720790.1:p.Ala1726Thr, XP_047289162.1:p.Ala1803Thr, XP_016878184.1:p.Ala1774Thr, XP_047289163.1:p.Ala1651Thr, XP_016878185.1:p.Ala1774Thr, XP_047289164.1:p.Ala1812Thr, XP_047289165.1:p.Ala1812Thr

                                        20.

                                        rs1487049463 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:28163150 (GRCh38)
                                          15:28408296 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:28163149:T:C
                                          Gene:
                                          HERC2 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.28163150T>C, NC_000015.9:g.28408296T>C, NG_016355.1:g.164000A>G, NM_004667.6:c.10690A>G, NM_004667.5:c.10690A>G, NW_011332701.1:g.296592T>C, NT_187660.1:g.296592T>C, XM_005268276.6:c.10576A>G, XM_005268276.5:c.10576A>G, XM_005268276.4:c.10576A>G, XM_005268276.3:c.10576A>G, XM_005268276.2:c.10576A>G, XM_005268276.1:c.10576A>G, XM_006720726.4:c.10675A>G, XM_006720726.3:c.10675A>G, XM_006720726.2:c.10675A>G, XM_006720726.1:c.10675A>G, XM_006720727.4:c.10432A>G, XM_006720727.3:c.10432A>G, XM_006720727.2:c.10432A>G, XM_006720727.1:c.10432A>G, XM_017022698.2:c.3856A>G, XM_017022698.1:c.3856A>G, XM_017022697.2:c.3856A>G, XM_017022697.1:c.3856A>G, XM_017022696.2:c.10576A>G, XM_017022696.1:c.10576A>G, XM_017022695.1:c.10576A>G, XM_047433206.1:c.10663A>G, XM_047433207.1:c.10207A>G, NP_004658.3:p.Arg3564Gly, XP_005268333.1:p.Arg3526Gly, XP_006720789.1:p.Arg3559Gly, XP_006720790.1:p.Arg3478Gly, XP_016878187.1:p.Arg1286Gly, XP_016878186.1:p.Arg1286Gly, XP_016878185.1:p.Arg3526Gly, XP_016878184.1:p.Arg3526Gly, XP_047289162.1:p.Arg3555Gly, XP_047289163.1:p.Arg3403Gly

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