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Items: 1 to 20 of 521

1.

rs1484691766 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:40487386 (GRCh38)
    3:40528877 (GRCh37)
    Canonical SPDI:
    NC_000003.12:40487385:C:T
    Gene:
    ZNF619 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000021/3 (GnomAD)
    HGVS:
    NC_000003.12:g.40487386C>T, NC_000003.11:g.40528877C>T, NM_173656.5:c.828C>T, NM_173656.4:c.828C>T, NM_173656.3:c.828C>T, NM_173656.2:c.828C>T, NM_173656.1:c.828C>T, NM_001145082.4:c.996C>T, NM_001145082.3:c.996C>T, NM_001145082.2:c.996C>T, NM_001145093.4:c.876C>T, NM_001145093.3:c.876C>T, NM_001145093.2:c.876C>T, XM_006713113.4:c.741C>T, XM_006713113.3:c.741C>T, XM_006713113.2:c.741C>T, XM_006713113.1:c.741C>T, NM_001145094.3:c.849C>T, NM_001145094.2:c.849C>T, NM_001145094.1:c.849C>T, XM_006713112.3:c.873C>T, XM_006713112.2:c.873C>T, XM_006713112.1:c.873C>T, NM_001145083.3:c.744C>T, NM_001145083.2:c.744C>T, NM_001145083.1:c.744C>T, NM_001363277.2:c.702C>T, NM_001363277.1:c.702C>T, XM_011533607.2:c.993C>T, XM_011533607.1:c.993C>T, XM_017006225.2:c.849C>T, XM_017006225.1:c.849C>T, NR_026746.2:n.1333C>T, NM_001363278.1:c.828C>T, XM_047448010.1:c.852C>T

    2.

    rs1480923640 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:40487565 (GRCh38)
      3:40529056 (GRCh37)
      Canonical SPDI:
      NC_000003.12:40487564:G:A
      Gene:
      ZNF619 (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)
      HGVS:
      NC_000003.12:g.40487565G>A, NC_000003.11:g.40529056G>A, NM_173656.5:c.1007G>A, NM_173656.4:c.1007G>A, NM_173656.3:c.1007G>A, NM_173656.2:c.1007G>A, NM_173656.1:c.1007G>A, NM_001145082.4:c.1175G>A, NM_001145082.3:c.1175G>A, NM_001145082.2:c.1175G>A, NM_001145093.4:c.1055G>A, NM_001145093.3:c.1055G>A, NM_001145093.2:c.1055G>A, XM_006713113.4:c.920G>A, XM_006713113.3:c.920G>A, XM_006713113.2:c.920G>A, XM_006713113.1:c.920G>A, NM_001145094.3:c.1028G>A, NM_001145094.2:c.1028G>A, NM_001145094.1:c.1028G>A, XM_006713112.3:c.1052G>A, XM_006713112.2:c.1052G>A, XM_006713112.1:c.1052G>A, NM_001145083.3:c.923G>A, NM_001145083.2:c.923G>A, NM_001145083.1:c.923G>A, NM_001363277.2:c.881G>A, NM_001363277.1:c.881G>A, XM_011533607.2:c.1172G>A, XM_011533607.1:c.1172G>A, XM_017006225.2:c.1028G>A, XM_017006225.1:c.1028G>A, NR_026746.2:n.1512G>A, NM_001363278.1:c.1007G>A, XM_047448010.1:c.1031G>A, NP_775927.1:p.Ser336Asn, NP_001138554.1:p.Ser392Asn, NP_001138565.1:p.Ser352Asn, XP_006713176.1:p.Ser307Asn, NP_001138566.1:p.Ser343Asn, XP_006713175.1:p.Ser351Asn, NP_001138555.1:p.Ser308Asn, NP_001350206.1:p.Ser294Asn, XP_011531909.1:p.Ser391Asn, XP_016861714.1:p.Ser343Asn, XP_047303966.1:p.Ser344Asn

      3.

      rs1479596928 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TAT>- [Show Flanks]
        Chromosome:
        3:40487120 (GRCh38)
        3:40528611 (GRCh37)
        Canonical SPDI:
        NC_000003.12:40487118:TTAT:T
        Gene:
        ZNF619 (Varview)
        Functional Consequence:
        inframe_deletion,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000011/3 (TOPMED)
        HGVS:
        NC_000003.12:g.40487120_40487122del, NC_000003.11:g.40528611_40528613del, NM_173656.5:c.562_564del, NM_173656.4:c.562_564del, NM_173656.3:c.562_564del, NM_173656.2:c.562_564del, NM_173656.1:c.562_564del, NM_001145082.4:c.730_732del, NM_001145082.3:c.730_732del, NM_001145082.2:c.730_732del, NM_001145093.4:c.610_612del, NM_001145093.3:c.610_612del, NM_001145093.2:c.610_612del, XM_006713113.4:c.475_477del, XM_006713113.3:c.475_477del, XM_006713113.2:c.475_477del, XM_006713113.1:c.475_477del, NM_001145094.3:c.583_585del, NM_001145094.2:c.583_585del, NM_001145094.1:c.583_585del, XM_006713112.3:c.607_609del, XM_006713112.2:c.607_609del, XM_006713112.1:c.607_609del, NM_001145083.3:c.478_480del, NM_001145083.2:c.478_480del, NM_001145083.1:c.478_480del, NM_001363277.2:c.436_438del, NM_001363277.1:c.436_438del, XM_011533607.2:c.727_729del, XM_011533607.1:c.727_729del, XM_017006225.2:c.583_585del, XM_017006225.1:c.583_585del, NR_026746.2:n.1067_1069del, NM_001363278.1:c.562_564del, XM_047448010.1:c.586_588del, NP_775927.1:p.Tyr188del, NP_001138554.1:p.Tyr244del, NP_001138565.1:p.Tyr204del, XP_006713176.1:p.Tyr159del, NP_001138566.1:p.Tyr195del, XP_006713175.1:p.Tyr203del, NP_001138555.1:p.Tyr160del, NP_001350206.1:p.Tyr146del, XP_011531909.1:p.Tyr243del, XP_016861714.1:p.Tyr195del, XP_047303966.1:p.Tyr196del

        4.

        rs1478322641 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:40486982 (GRCh38)
          3:40528473 (GRCh37)
          Canonical SPDI:
          NC_000003.12:40486981:G:A
          Gene:
          ZNF619 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000003.12:g.40486982G>A, NC_000003.11:g.40528473G>A, NM_173656.5:c.424G>A, NM_173656.4:c.424G>A, NM_173656.3:c.424G>A, NM_173656.2:c.424G>A, NM_173656.1:c.424G>A, NM_001145082.4:c.592G>A, NM_001145082.3:c.592G>A, NM_001145082.2:c.592G>A, NM_001145093.4:c.472G>A, NM_001145093.3:c.472G>A, NM_001145093.2:c.472G>A, XM_006713113.4:c.337G>A, XM_006713113.3:c.337G>A, XM_006713113.2:c.337G>A, XM_006713113.1:c.337G>A, NM_001145094.3:c.445G>A, NM_001145094.2:c.445G>A, NM_001145094.1:c.445G>A, XM_006713112.3:c.469G>A, XM_006713112.2:c.469G>A, XM_006713112.1:c.469G>A, NM_001145083.3:c.340G>A, NM_001145083.2:c.340G>A, NM_001145083.1:c.340G>A, NM_001363277.2:c.298G>A, NM_001363277.1:c.298G>A, XM_011533607.2:c.589G>A, XM_011533607.1:c.589G>A, XM_017006225.2:c.445G>A, XM_017006225.1:c.445G>A, NR_026746.2:n.929G>A, NM_001363278.1:c.424G>A, XM_047448010.1:c.448G>A, NP_775927.1:p.Gly142Arg, NP_001138554.1:p.Gly198Arg, NP_001138565.1:p.Gly158Arg, XP_006713176.1:p.Gly113Arg, NP_001138566.1:p.Gly149Arg, XP_006713175.1:p.Gly157Arg, NP_001138555.1:p.Gly114Arg, NP_001350206.1:p.Gly100Arg, XP_011531909.1:p.Gly197Arg, XP_016861714.1:p.Gly149Arg, XP_047303966.1:p.Gly150Arg

          5.

          rs1477483651 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:40477994 (GRCh38)
            3:40519485 (GRCh37)
            Canonical SPDI:
            NC_000003.12:40477993:G:A
            Gene:
            ZNF619 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant,synonymous_variant
            HGVS:
            NC_000003.12:g.40477994G>A, NC_000003.11:g.40519485G>A, NM_173656.5:c.-84G>A, NM_173656.4:c.-84G>A, NM_173656.3:c.-84G>A, NM_173656.2:c.-84G>A, NM_173656.1:c.-84G>A, NM_001145082.4:c.15G>A, NM_001145082.3:c.15G>A, NM_001145082.2:c.15G>A, NM_001145093.4:c.15G>A, NM_001145093.3:c.15G>A, NM_001145093.2:c.15G>A, XM_006713113.4:c.37G>A, XM_006713113.3:c.37G>A, XM_006713113.2:c.37G>A, XM_006713113.1:c.37G>A, NM_001145094.3:c.-84G>A, NM_001145094.2:c.-84G>A, NM_001145094.1:c.-84G>A, XM_006713112.3:c.15G>A, XM_006713112.2:c.15G>A, XM_006713112.1:c.15G>A, NM_001145083.3:c.37G>A, NM_001145083.2:c.37G>A, NM_001145083.1:c.37G>A, NM_001363277.2:c.-310G>A, NM_001363277.1:c.-310G>A, XM_011533607.2:c.15G>A, XM_011533607.1:c.15G>A, NR_026746.2:n.322G>A, NM_001363278.1:c.-84G>A, XP_006713176.1:p.Val13Met, NP_001138555.1:p.Val13Met

            6.

            rs1476226506 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:40487734 (GRCh38)
              3:40529225 (GRCh37)
              Canonical SPDI:
              NC_000003.12:40487733:T:G
              Gene:
              ZNF619 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.40487734T>G, NC_000003.11:g.40529225T>G, NM_173656.5:c.1176T>G, NM_173656.4:c.1176T>G, NM_173656.3:c.1176T>G, NM_173656.2:c.1176T>G, NM_173656.1:c.1176T>G, NM_001145082.4:c.1344T>G, NM_001145082.3:c.1344T>G, NM_001145082.2:c.1344T>G, NM_001145093.4:c.1224T>G, NM_001145093.3:c.1224T>G, NM_001145093.2:c.1224T>G, XM_006713113.4:c.1089T>G, XM_006713113.3:c.1089T>G, XM_006713113.2:c.1089T>G, XM_006713113.1:c.1089T>G, NM_001145094.3:c.1197T>G, NM_001145094.2:c.1197T>G, NM_001145094.1:c.1197T>G, XM_006713112.3:c.1221T>G, XM_006713112.2:c.1221T>G, XM_006713112.1:c.1221T>G, NM_001145083.3:c.1092T>G, NM_001145083.2:c.1092T>G, NM_001145083.1:c.1092T>G, NM_001363277.2:c.1050T>G, NM_001363277.1:c.1050T>G, XM_011533607.2:c.1341T>G, XM_011533607.1:c.1341T>G, XM_017006225.2:c.1197T>G, XM_017006225.1:c.1197T>G, NR_026746.2:n.1681T>G, NM_001363278.1:c.1176T>G, XM_047448010.1:c.1200T>G

              7.

              rs1476177387 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                3:40487261 (GRCh38)
                3:40528752 (GRCh37)
                Canonical SPDI:
                NC_000003.12:40487260:C:G
                Gene:
                ZNF619 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.40487261C>G, NC_000003.11:g.40528752C>G, NM_173656.5:c.703C>G, NM_173656.4:c.703C>G, NM_173656.3:c.703C>G, NM_173656.2:c.703C>G, NM_173656.1:c.703C>G, NM_001145082.4:c.871C>G, NM_001145082.3:c.871C>G, NM_001145082.2:c.871C>G, NM_001145093.4:c.751C>G, NM_001145093.3:c.751C>G, NM_001145093.2:c.751C>G, XM_006713113.4:c.616C>G, XM_006713113.3:c.616C>G, XM_006713113.2:c.616C>G, XM_006713113.1:c.616C>G, NM_001145094.3:c.724C>G, NM_001145094.2:c.724C>G, NM_001145094.1:c.724C>G, XM_006713112.3:c.748C>G, XM_006713112.2:c.748C>G, XM_006713112.1:c.748C>G, NM_001145083.3:c.619C>G, NM_001145083.2:c.619C>G, NM_001145083.1:c.619C>G, NM_001363277.2:c.577C>G, NM_001363277.1:c.577C>G, XM_011533607.2:c.868C>G, XM_011533607.1:c.868C>G, XM_017006225.2:c.724C>G, XM_017006225.1:c.724C>G, NR_026746.2:n.1208C>G, NM_001363278.1:c.703C>G, XM_047448010.1:c.727C>G, NP_775927.1:p.Gln235Glu, NP_001138554.1:p.Gln291Glu, NP_001138565.1:p.Gln251Glu, XP_006713176.1:p.Gln206Glu, NP_001138566.1:p.Gln242Glu, XP_006713175.1:p.Gln250Glu, NP_001138555.1:p.Gln207Glu, NP_001350206.1:p.Gln193Glu, XP_011531909.1:p.Gln290Glu, XP_016861714.1:p.Gln242Glu, XP_047303966.1:p.Gln243Glu

                8.

                rs1474254095 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  3:40487052 (GRCh38)
                  3:40528543 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:40487051:A:G,NC_000003.12:40487051:A:T
                  Gene:
                  ZNF619 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.40487052A>G, NC_000003.12:g.40487052A>T, NC_000003.11:g.40528543A>G, NC_000003.11:g.40528543A>T, NM_173656.5:c.494A>G, NM_173656.5:c.494A>T, NM_173656.4:c.494A>G, NM_173656.4:c.494A>T, NM_173656.3:c.494A>G, NM_173656.3:c.494A>T, NM_173656.2:c.494A>G, NM_173656.2:c.494A>T, NM_173656.1:c.494A>G, NM_173656.1:c.494A>T, NM_001145082.4:c.662A>G, NM_001145082.4:c.662A>T, NM_001145082.3:c.662A>G, NM_001145082.3:c.662A>T, NM_001145082.2:c.662A>G, NM_001145082.2:c.662A>T, NM_001145093.4:c.542A>G, NM_001145093.4:c.542A>T, NM_001145093.3:c.542A>G, NM_001145093.3:c.542A>T, NM_001145093.2:c.542A>G, NM_001145093.2:c.542A>T, XM_006713113.4:c.407A>G, XM_006713113.4:c.407A>T, XM_006713113.3:c.407A>G, XM_006713113.3:c.407A>T, XM_006713113.2:c.407A>G, XM_006713113.2:c.407A>T, XM_006713113.1:c.407A>G, XM_006713113.1:c.407A>T, NM_001145094.3:c.515A>G, NM_001145094.3:c.515A>T, NM_001145094.2:c.515A>G, NM_001145094.2:c.515A>T, NM_001145094.1:c.515A>G, NM_001145094.1:c.515A>T, XM_006713112.3:c.539A>G, XM_006713112.3:c.539A>T, XM_006713112.2:c.539A>G, XM_006713112.2:c.539A>T, XM_006713112.1:c.539A>G, XM_006713112.1:c.539A>T, NM_001145083.3:c.410A>G, NM_001145083.3:c.410A>T, NM_001145083.2:c.410A>G, NM_001145083.2:c.410A>T, NM_001145083.1:c.410A>G, NM_001145083.1:c.410A>T, NM_001363277.2:c.368A>G, NM_001363277.2:c.368A>T, NM_001363277.1:c.368A>G, NM_001363277.1:c.368A>T, XM_011533607.2:c.659A>G, XM_011533607.2:c.659A>T, XM_011533607.1:c.659A>G, XM_011533607.1:c.659A>T, XM_017006225.2:c.515A>G, XM_017006225.2:c.515A>T, XM_017006225.1:c.515A>G, XM_017006225.1:c.515A>T, NR_026746.2:n.999A>G, NR_026746.2:n.999A>T, NM_001363278.1:c.494A>G, NM_001363278.1:c.494A>T, XM_047448010.1:c.518A>G, XM_047448010.1:c.518A>T, NP_775927.1:p.Lys165Arg, NP_775927.1:p.Lys165Ile, NP_001138554.1:p.Lys221Arg, NP_001138554.1:p.Lys221Ile, NP_001138565.1:p.Lys181Arg, NP_001138565.1:p.Lys181Ile, XP_006713176.1:p.Lys136Arg, XP_006713176.1:p.Lys136Ile, NP_001138566.1:p.Lys172Arg, NP_001138566.1:p.Lys172Ile, XP_006713175.1:p.Lys180Arg, XP_006713175.1:p.Lys180Ile, NP_001138555.1:p.Lys137Arg, NP_001138555.1:p.Lys137Ile, NP_001350206.1:p.Lys123Arg, NP_001350206.1:p.Lys123Ile, XP_011531909.1:p.Lys220Arg, XP_011531909.1:p.Lys220Ile, XP_016861714.1:p.Lys172Arg, XP_016861714.1:p.Lys172Ile, XP_047303966.1:p.Lys173Arg, XP_047303966.1:p.Lys173Ile

                  9.

                  rs1473721368 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:40487183 (GRCh38)
                    3:40528674 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:40487182:G:A
                    Gene:
                    ZNF619 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000224/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000223/1 (Estonian)
                    HGVS:
                    NC_000003.12:g.40487183G>A, NC_000003.11:g.40528674G>A, NM_173656.5:c.625G>A, NM_173656.4:c.625G>A, NM_173656.3:c.625G>A, NM_173656.2:c.625G>A, NM_173656.1:c.625G>A, NM_001145082.4:c.793G>A, NM_001145082.3:c.793G>A, NM_001145082.2:c.793G>A, NM_001145093.4:c.673G>A, NM_001145093.3:c.673G>A, NM_001145093.2:c.673G>A, XM_006713113.4:c.538G>A, XM_006713113.3:c.538G>A, XM_006713113.2:c.538G>A, XM_006713113.1:c.538G>A, NM_001145094.3:c.646G>A, NM_001145094.2:c.646G>A, NM_001145094.1:c.646G>A, XM_006713112.3:c.670G>A, XM_006713112.2:c.670G>A, XM_006713112.1:c.670G>A, NM_001145083.3:c.541G>A, NM_001145083.2:c.541G>A, NM_001145083.1:c.541G>A, NM_001363277.2:c.499G>A, NM_001363277.1:c.499G>A, XM_011533607.2:c.790G>A, XM_011533607.1:c.790G>A, XM_017006225.2:c.646G>A, XM_017006225.1:c.646G>A, NR_026746.2:n.1130G>A, NM_001363278.1:c.625G>A, XM_047448010.1:c.649G>A, NP_775927.1:p.Val209Ile, NP_001138554.1:p.Val265Ile, NP_001138565.1:p.Val225Ile, XP_006713176.1:p.Val180Ile, NP_001138566.1:p.Val216Ile, XP_006713175.1:p.Val224Ile, NP_001138555.1:p.Val181Ile, NP_001350206.1:p.Val167Ile, XP_011531909.1:p.Val264Ile, XP_016861714.1:p.Val216Ile, XP_047303966.1:p.Val217Ile

                    10.

                    rs1471169488 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      3:40487557 (GRCh38)
                      3:40529048 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:40487556:T:G
                      Gene:
                      ZNF619 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.40487557T>G, NC_000003.11:g.40529048T>G, NM_173656.5:c.999T>G, NM_173656.4:c.999T>G, NM_173656.3:c.999T>G, NM_173656.2:c.999T>G, NM_173656.1:c.999T>G, NM_001145082.4:c.1167T>G, NM_001145082.3:c.1167T>G, NM_001145082.2:c.1167T>G, NM_001145093.4:c.1047T>G, NM_001145093.3:c.1047T>G, NM_001145093.2:c.1047T>G, XM_006713113.4:c.912T>G, XM_006713113.3:c.912T>G, XM_006713113.2:c.912T>G, XM_006713113.1:c.912T>G, NM_001145094.3:c.1020T>G, NM_001145094.2:c.1020T>G, NM_001145094.1:c.1020T>G, XM_006713112.3:c.1044T>G, XM_006713112.2:c.1044T>G, XM_006713112.1:c.1044T>G, NM_001145083.3:c.915T>G, NM_001145083.2:c.915T>G, NM_001145083.1:c.915T>G, NM_001363277.2:c.873T>G, NM_001363277.1:c.873T>G, XM_011533607.2:c.1164T>G, XM_011533607.1:c.1164T>G, XM_017006225.2:c.1020T>G, XM_017006225.1:c.1020T>G, NR_026746.2:n.1504T>G, NM_001363278.1:c.999T>G, XM_047448010.1:c.1023T>G, NP_775927.1:p.Cys333Trp, NP_001138554.1:p.Cys389Trp, NP_001138565.1:p.Cys349Trp, XP_006713176.1:p.Cys304Trp, NP_001138566.1:p.Cys340Trp, XP_006713175.1:p.Cys348Trp, NP_001138555.1:p.Cys305Trp, NP_001350206.1:p.Cys291Trp, XP_011531909.1:p.Cys388Trp, XP_016861714.1:p.Cys340Trp, XP_047303966.1:p.Cys341Trp

                      11.

                      rs1469116989 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        3:40487548 (GRCh38)
                        3:40529039 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:40487547:T:G
                        Gene:
                        ZNF619 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.40487548T>G, NC_000003.11:g.40529039T>G, NM_173656.5:c.990T>G, NM_173656.4:c.990T>G, NM_173656.3:c.990T>G, NM_173656.2:c.990T>G, NM_173656.1:c.990T>G, NM_001145082.4:c.1158T>G, NM_001145082.3:c.1158T>G, NM_001145082.2:c.1158T>G, NM_001145093.4:c.1038T>G, NM_001145093.3:c.1038T>G, NM_001145093.2:c.1038T>G, XM_006713113.4:c.903T>G, XM_006713113.3:c.903T>G, XM_006713113.2:c.903T>G, XM_006713113.1:c.903T>G, NM_001145094.3:c.1011T>G, NM_001145094.2:c.1011T>G, NM_001145094.1:c.1011T>G, XM_006713112.3:c.1035T>G, XM_006713112.2:c.1035T>G, XM_006713112.1:c.1035T>G, NM_001145083.3:c.906T>G, NM_001145083.2:c.906T>G, NM_001145083.1:c.906T>G, NM_001363277.2:c.864T>G, NM_001363277.1:c.864T>G, XM_011533607.2:c.1155T>G, XM_011533607.1:c.1155T>G, XM_017006225.2:c.1011T>G, XM_017006225.1:c.1011T>G, NR_026746.2:n.1495T>G, NM_001363278.1:c.990T>G, XM_047448010.1:c.1014T>G, NP_775927.1:p.Cys330Trp, NP_001138554.1:p.Cys386Trp, NP_001138565.1:p.Cys346Trp, XP_006713176.1:p.Cys301Trp, NP_001138566.1:p.Cys337Trp, XP_006713175.1:p.Cys345Trp, NP_001138555.1:p.Cys302Trp, NP_001350206.1:p.Cys288Trp, XP_011531909.1:p.Cys385Trp, XP_016861714.1:p.Cys337Trp, XP_047303966.1:p.Cys338Trp

                        12.

                        rs1469011961 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          3:40487356 (GRCh38)
                          3:40528847 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:40487355:T:A
                          Gene:
                          ZNF619 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000031/1 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000043/6 (GnomAD)
                          HGVS:
                          NC_000003.12:g.40487356T>A, NC_000003.11:g.40528847T>A, NM_173656.5:c.798T>A, NM_173656.4:c.798T>A, NM_173656.3:c.798T>A, NM_173656.2:c.798T>A, NM_173656.1:c.798T>A, NM_001145082.4:c.966T>A, NM_001145082.3:c.966T>A, NM_001145082.2:c.966T>A, NM_001145093.4:c.846T>A, NM_001145093.3:c.846T>A, NM_001145093.2:c.846T>A, XM_006713113.4:c.711T>A, XM_006713113.3:c.711T>A, XM_006713113.2:c.711T>A, XM_006713113.1:c.711T>A, NM_001145094.3:c.819T>A, NM_001145094.2:c.819T>A, NM_001145094.1:c.819T>A, XM_006713112.3:c.843T>A, XM_006713112.2:c.843T>A, XM_006713112.1:c.843T>A, NM_001145083.3:c.714T>A, NM_001145083.2:c.714T>A, NM_001145083.1:c.714T>A, NM_001363277.2:c.672T>A, NM_001363277.1:c.672T>A, XM_011533607.2:c.963T>A, XM_011533607.1:c.963T>A, XM_017006225.2:c.819T>A, XM_017006225.1:c.819T>A, NR_026746.2:n.1303T>A, NM_001363278.1:c.798T>A, XM_047448010.1:c.822T>A, NP_775927.1:p.His266Gln, NP_001138554.1:p.His322Gln, NP_001138565.1:p.His282Gln, XP_006713176.1:p.His237Gln, NP_001138566.1:p.His273Gln, XP_006713175.1:p.His281Gln, NP_001138555.1:p.His238Gln, NP_001350206.1:p.His224Gln, XP_011531909.1:p.His321Gln, XP_016861714.1:p.His273Gln, XP_047303966.1:p.His274Gln

                          13.

                          rs1468606832 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            3:40486883 (GRCh38)
                            3:40528374 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:40486882:A:T
                            Gene:
                            ZNF619 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000051/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.40486883A>T, NC_000003.11:g.40528374A>T, NM_173656.5:c.325A>T, NM_173656.4:c.325A>T, NM_173656.3:c.325A>T, NM_173656.2:c.325A>T, NM_173656.1:c.325A>T, NM_001145082.4:c.493A>T, NM_001145082.3:c.493A>T, NM_001145082.2:c.493A>T, NM_001145093.4:c.373A>T, NM_001145093.3:c.373A>T, NM_001145093.2:c.373A>T, XM_006713113.4:c.238A>T, XM_006713113.3:c.238A>T, XM_006713113.2:c.238A>T, XM_006713113.1:c.238A>T, NM_001145094.3:c.346A>T, NM_001145094.2:c.346A>T, NM_001145094.1:c.346A>T, XM_006713112.3:c.370A>T, XM_006713112.2:c.370A>T, XM_006713112.1:c.370A>T, NM_001145083.3:c.241A>T, NM_001145083.2:c.241A>T, NM_001145083.1:c.241A>T, NM_001363277.2:c.199A>T, NM_001363277.1:c.199A>T, XM_011533607.2:c.490A>T, XM_011533607.1:c.490A>T, XM_017006225.2:c.346A>T, XM_017006225.1:c.346A>T, NR_026746.2:n.830A>T, NM_001363278.1:c.325A>T, XM_047448010.1:c.349A>T, NP_775927.1:p.Ile109Leu, NP_001138554.1:p.Ile165Leu, NP_001138565.1:p.Ile125Leu, XP_006713176.1:p.Ile80Leu, NP_001138566.1:p.Ile116Leu, XP_006713175.1:p.Ile124Leu, NP_001138555.1:p.Ile81Leu, NP_001350206.1:p.Ile67Leu, XP_011531909.1:p.Ile164Leu, XP_016861714.1:p.Ile116Leu, XP_047303966.1:p.Ile117Leu

                            14.

                            rs1467799592 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              3:40487171 (GRCh38)
                              3:40528662 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:40487170:C:A
                              Gene:
                              ZNF619 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000003.12:g.40487171C>A, NC_000003.11:g.40528662C>A, NM_173656.5:c.613C>A, NM_173656.4:c.613C>A, NM_173656.3:c.613C>A, NM_173656.2:c.613C>A, NM_173656.1:c.613C>A, NM_001145082.4:c.781C>A, NM_001145082.3:c.781C>A, NM_001145082.2:c.781C>A, NM_001145093.4:c.661C>A, NM_001145093.3:c.661C>A, NM_001145093.2:c.661C>A, XM_006713113.4:c.526C>A, XM_006713113.3:c.526C>A, XM_006713113.2:c.526C>A, XM_006713113.1:c.526C>A, NM_001145094.3:c.634C>A, NM_001145094.2:c.634C>A, NM_001145094.1:c.634C>A, XM_006713112.3:c.658C>A, XM_006713112.2:c.658C>A, XM_006713112.1:c.658C>A, NM_001145083.3:c.529C>A, NM_001145083.2:c.529C>A, NM_001145083.1:c.529C>A, NM_001363277.2:c.487C>A, NM_001363277.1:c.487C>A, XM_011533607.2:c.778C>A, XM_011533607.1:c.778C>A, XM_017006225.2:c.634C>A, XM_017006225.1:c.634C>A, NR_026746.2:n.1118C>A, NM_001363278.1:c.613C>A, XM_047448010.1:c.637C>A, NP_775927.1:p.Leu205Met, NP_001138554.1:p.Leu261Met, NP_001138565.1:p.Leu221Met, XP_006713176.1:p.Leu176Met, NP_001138566.1:p.Leu212Met, XP_006713175.1:p.Leu220Met, NP_001138555.1:p.Leu177Met, NP_001350206.1:p.Leu163Met, XP_011531909.1:p.Leu260Met, XP_016861714.1:p.Leu212Met, XP_047303966.1:p.Leu213Met

                              15.

                              rs1462008567 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:40487140 (GRCh38)
                                3:40528631 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:40487139:C:T
                                Gene:
                                ZNF619 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000003.12:g.40487140C>T, NC_000003.11:g.40528631C>T, NM_173656.5:c.582C>T, NM_173656.4:c.582C>T, NM_173656.3:c.582C>T, NM_173656.2:c.582C>T, NM_173656.1:c.582C>T, NM_001145082.4:c.750C>T, NM_001145082.3:c.750C>T, NM_001145082.2:c.750C>T, NM_001145093.4:c.630C>T, NM_001145093.3:c.630C>T, NM_001145093.2:c.630C>T, XM_006713113.4:c.495C>T, XM_006713113.3:c.495C>T, XM_006713113.2:c.495C>T, XM_006713113.1:c.495C>T, NM_001145094.3:c.603C>T, NM_001145094.2:c.603C>T, NM_001145094.1:c.603C>T, XM_006713112.3:c.627C>T, XM_006713112.2:c.627C>T, XM_006713112.1:c.627C>T, NM_001145083.3:c.498C>T, NM_001145083.2:c.498C>T, NM_001145083.1:c.498C>T, NM_001363277.2:c.456C>T, NM_001363277.1:c.456C>T, XM_011533607.2:c.747C>T, XM_011533607.1:c.747C>T, XM_017006225.2:c.603C>T, XM_017006225.1:c.603C>T, NR_026746.2:n.1087C>T, NM_001363278.1:c.582C>T, XM_047448010.1:c.606C>T

                                16.

                                rs1461701118 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  3:40487601 (GRCh38)
                                  3:40529092 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:40487600:G:T
                                  Gene:
                                  ZNF619 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.40487601G>T, NC_000003.11:g.40529092G>T, NM_173656.5:c.1043G>T, NM_173656.4:c.1043G>T, NM_173656.3:c.1043G>T, NM_173656.2:c.1043G>T, NM_173656.1:c.1043G>T, NM_001145082.4:c.1211G>T, NM_001145082.3:c.1211G>T, NM_001145082.2:c.1211G>T, NM_001145093.4:c.1091G>T, NM_001145093.3:c.1091G>T, NM_001145093.2:c.1091G>T, XM_006713113.4:c.956G>T, XM_006713113.3:c.956G>T, XM_006713113.2:c.956G>T, XM_006713113.1:c.956G>T, NM_001145094.3:c.1064G>T, NM_001145094.2:c.1064G>T, NM_001145094.1:c.1064G>T, XM_006713112.3:c.1088G>T, XM_006713112.2:c.1088G>T, XM_006713112.1:c.1088G>T, NM_001145083.3:c.959G>T, NM_001145083.2:c.959G>T, NM_001145083.1:c.959G>T, NM_001363277.2:c.917G>T, NM_001363277.1:c.917G>T, XM_011533607.2:c.1208G>T, XM_011533607.1:c.1208G>T, XM_017006225.2:c.1064G>T, XM_017006225.1:c.1064G>T, NR_026746.2:n.1548G>T, NM_001363278.1:c.1043G>T, XM_047448010.1:c.1067G>T, NP_775927.1:p.Arg348Ile, NP_001138554.1:p.Arg404Ile, NP_001138565.1:p.Arg364Ile, XP_006713176.1:p.Arg319Ile, NP_001138566.1:p.Arg355Ile, XP_006713175.1:p.Arg363Ile, NP_001138555.1:p.Arg320Ile, NP_001350206.1:p.Arg306Ile, XP_011531909.1:p.Arg403Ile, XP_016861714.1:p.Arg355Ile, XP_047303966.1:p.Arg356Ile

                                  17.

                                  rs1460130500 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:40487200 (GRCh38)
                                    3:40528691 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:40487199:G:A
                                    Gene:
                                    ZNF619 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000003.12:g.40487200G>A, NC_000003.11:g.40528691G>A, NM_173656.5:c.642G>A, NM_173656.4:c.642G>A, NM_173656.3:c.642G>A, NM_173656.2:c.642G>A, NM_173656.1:c.642G>A, NM_001145082.4:c.810G>A, NM_001145082.3:c.810G>A, NM_001145082.2:c.810G>A, NM_001145093.4:c.690G>A, NM_001145093.3:c.690G>A, NM_001145093.2:c.690G>A, XM_006713113.4:c.555G>A, XM_006713113.3:c.555G>A, XM_006713113.2:c.555G>A, XM_006713113.1:c.555G>A, NM_001145094.3:c.663G>A, NM_001145094.2:c.663G>A, NM_001145094.1:c.663G>A, XM_006713112.3:c.687G>A, XM_006713112.2:c.687G>A, XM_006713112.1:c.687G>A, NM_001145083.3:c.558G>A, NM_001145083.2:c.558G>A, NM_001145083.1:c.558G>A, NM_001363277.2:c.516G>A, NM_001363277.1:c.516G>A, XM_011533607.2:c.807G>A, XM_011533607.1:c.807G>A, XM_017006225.2:c.663G>A, XM_017006225.1:c.663G>A, NR_026746.2:n.1147G>A, NM_001363278.1:c.642G>A, XM_047448010.1:c.666G>A

                                    18.

                                    rs1460105978 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:40487635 (GRCh38)
                                      3:40529126 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:40487634:A:G
                                      Gene:
                                      ZNF619 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000003.12:g.40487635A>G, NC_000003.11:g.40529126A>G, NM_173656.5:c.1077A>G, NM_173656.4:c.1077A>G, NM_173656.3:c.1077A>G, NM_173656.2:c.1077A>G, NM_173656.1:c.1077A>G, NM_001145082.4:c.1245A>G, NM_001145082.3:c.1245A>G, NM_001145082.2:c.1245A>G, NM_001145093.4:c.1125A>G, NM_001145093.3:c.1125A>G, NM_001145093.2:c.1125A>G, XM_006713113.4:c.990A>G, XM_006713113.3:c.990A>G, XM_006713113.2:c.990A>G, XM_006713113.1:c.990A>G, NM_001145094.3:c.1098A>G, NM_001145094.2:c.1098A>G, NM_001145094.1:c.1098A>G, XM_006713112.3:c.1122A>G, XM_006713112.2:c.1122A>G, XM_006713112.1:c.1122A>G, NM_001145083.3:c.993A>G, NM_001145083.2:c.993A>G, NM_001145083.1:c.993A>G, NM_001363277.2:c.951A>G, NM_001363277.1:c.951A>G, XM_011533607.2:c.1242A>G, XM_011533607.1:c.1242A>G, XM_017006225.2:c.1098A>G, XM_017006225.1:c.1098A>G, NR_026746.2:n.1582A>G, NM_001363278.1:c.1077A>G, XM_047448010.1:c.1101A>G

                                      19.

                                      rs1459704766 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:40482663 (GRCh38)
                                        3:40524154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:40482662:G:A
                                        Gene:
                                        ZNF619 (Varview)
                                        Functional Consequence:
                                        stop_gained,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.40482663G>A, NC_000003.11:g.40524154G>A, NM_173656.5:c.156G>A, NM_173656.4:c.156G>A, NM_173656.3:c.156G>A, NM_173656.2:c.156G>A, NM_173656.1:c.156G>A, NM_001145082.4:c.374G>A, NM_001145082.3:c.374G>A, NM_001145082.2:c.374G>A, NM_001145093.4:c.254G>A, NM_001145093.3:c.254G>A, NM_001145093.2:c.254G>A, XM_006713113.4:c.119G>A, XM_006713113.3:c.119G>A, XM_006713113.2:c.119G>A, XM_006713113.1:c.119G>A, NM_001145094.3:c.156G>A, NM_001145094.2:c.156G>A, NM_001145094.1:c.156G>A, XM_006713112.3:c.251G>A, XM_006713112.2:c.251G>A, XM_006713112.1:c.251G>A, NM_001145083.3:c.122G>A, NM_001145083.2:c.122G>A, NM_001145083.1:c.122G>A, NM_001363277.2:c.80G>A, NM_001363277.1:c.80G>A, XM_011533607.2:c.371G>A, XM_011533607.1:c.371G>A, XM_017006225.2:c.156G>A, XM_017006225.1:c.156G>A, NR_026746.2:n.711G>A, NM_001363278.1:c.156G>A, XM_047448010.1:c.230G>A, NP_001138554.1:p.Trp125Ter, NP_001138565.1:p.Trp85Ter, XP_006713176.1:p.Trp40Ter, XP_006713175.1:p.Trp84Ter, NP_001138555.1:p.Trp41Ter, NP_001350206.1:p.Trp27Ter, XP_011531909.1:p.Trp124Ter, XP_047303966.1:p.Trp77Ter

                                        20.

                                        rs1454847898 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          3:40487460 (GRCh38)
                                          3:40528951 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:40487459:A:C
                                          Gene:
                                          ZNF619 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000111/1 (ALFA)
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.40487460A>C, NC_000003.11:g.40528951A>C, NM_173656.5:c.902A>C, NM_173656.4:c.902A>C, NM_173656.3:c.902A>C, NM_173656.2:c.902A>C, NM_173656.1:c.902A>C, NM_001145082.4:c.1070A>C, NM_001145082.3:c.1070A>C, NM_001145082.2:c.1070A>C, NM_001145093.4:c.950A>C, NM_001145093.3:c.950A>C, NM_001145093.2:c.950A>C, XM_006713113.4:c.815A>C, XM_006713113.3:c.815A>C, XM_006713113.2:c.815A>C, XM_006713113.1:c.815A>C, NM_001145094.3:c.923A>C, NM_001145094.2:c.923A>C, NM_001145094.1:c.923A>C, XM_006713112.3:c.947A>C, XM_006713112.2:c.947A>C, XM_006713112.1:c.947A>C, NM_001145083.3:c.818A>C, NM_001145083.2:c.818A>C, NM_001145083.1:c.818A>C, NM_001363277.2:c.776A>C, NM_001363277.1:c.776A>C, XM_011533607.2:c.1067A>C, XM_011533607.1:c.1067A>C, XM_017006225.2:c.923A>C, XM_017006225.1:c.923A>C, NR_026746.2:n.1407A>C, NM_001363278.1:c.902A>C, XM_047448010.1:c.926A>C, NP_775927.1:p.Lys301Thr, NP_001138554.1:p.Lys357Thr, NP_001138565.1:p.Lys317Thr, XP_006713176.1:p.Lys272Thr, NP_001138566.1:p.Lys308Thr, XP_006713175.1:p.Lys316Thr, NP_001138555.1:p.Lys273Thr, NP_001350206.1:p.Lys259Thr, XP_011531909.1:p.Lys356Thr, XP_016861714.1:p.Lys308Thr, XP_047303966.1:p.Lys309Thr

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