U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1657

1.

rs1490393558 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    19:47067544 (GRCh38)
    19:47570801 (GRCh37)
    Canonical SPDI:
    NC_000019.10:47067543:G:C
    Gene:
    ZC3H4 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000019.10:g.47067544G>C, NC_000019.9:g.47570801G>C, NG_027798.1:g.51209C>G, NM_015168.2:c.2724C>G, NM_015168.1:c.2724C>G, XM_005258677.5:c.2601C>G, XM_005258677.4:c.2601C>G, XM_005258677.3:c.2601C>G, XM_005258677.2:c.2601C>G, XM_005258677.1:c.2601C>G, XM_005258676.4:c.2616C>G, XM_005258676.3:c.2616C>G, XM_005258676.2:c.2616C>G, XM_005258676.1:c.2616C>G, XM_006723113.4:c.2724C>G, XM_006723113.3:c.2724C>G, XM_006723113.2:c.2724C>G, XM_006723113.1:c.2724C>G, XM_011526670.4:c.2574C>G, XM_011526670.3:c.2574C>G, XM_011526670.2:c.2574C>G, XM_011526670.1:c.2574C>G, XM_011526669.4:c.2586C>G, XM_011526669.3:c.2586C>G, XM_011526669.2:c.2586C>G, XM_011526669.1:c.2586C>G, XM_011526668.4:c.2601C>G, XM_011526668.3:c.2601C>G, XM_011526668.2:c.2601C>G, XM_011526668.1:c.2601C>G, XM_017026530.3:c.2472C>G, XM_017026530.2:c.2472C>G, XM_017026530.1:c.2472C>G, XM_005258678.3:c.2577C>G, XM_005258678.2:c.2577C>G, XM_005258678.1:c.2577C>G, XM_047438514.1:c.2364C>G, XM_047438517.1:c.2172C>G, XM_047438515.1:c.2334C>G, XM_047438516.1:c.2325C>G, XM_047438518.1:c.1833C>G, NP_055983.1:p.Ser908Arg, XP_005258734.1:p.Ser867Arg, XP_005258733.1:p.Ser872Arg, XP_006723176.1:p.Ser908Arg, XP_011524972.1:p.Ser858Arg, XP_011524971.1:p.Ser862Arg, XP_011524970.1:p.Ser867Arg, XP_016882019.1:p.Ser824Arg, XP_005258735.1:p.Ser859Arg, XP_047294470.1:p.Ser788Arg, XP_047294473.1:p.Ser724Arg, XP_047294471.1:p.Ser778Arg, XP_047294472.1:p.Ser775Arg, XP_047294474.1:p.Ser611Arg
    2.

    rs1490237703 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:47082243 (GRCh38)
      19:47585500 (GRCh37)
      Canonical SPDI:
      NC_000019.10:47082242:A:G
      Gene:
      ZC3H4 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.47082243A>G, NC_000019.9:g.47585500A>G, NG_027798.1:g.36510T>C, NM_015168.2:c.1271T>C, NM_015168.1:c.1271T>C, XM_005258677.5:c.1148T>C, XM_005258677.4:c.1148T>C, XM_005258677.3:c.1148T>C, XM_005258677.2:c.1148T>C, XM_005258677.1:c.1148T>C, XM_005258676.4:c.1163T>C, XM_005258676.3:c.1163T>C, XM_005258676.2:c.1163T>C, XM_005258676.1:c.1163T>C, XM_006723113.4:c.1271T>C, XM_006723113.3:c.1271T>C, XM_006723113.2:c.1271T>C, XM_006723113.1:c.1271T>C, XM_011526670.4:c.1121T>C, XM_011526670.3:c.1121T>C, XM_011526670.2:c.1121T>C, XM_011526670.1:c.1121T>C, XM_011526669.4:c.1133T>C, XM_011526669.3:c.1133T>C, XM_011526669.2:c.1133T>C, XM_011526669.1:c.1133T>C, XM_011526668.4:c.1148T>C, XM_011526668.3:c.1148T>C, XM_011526668.2:c.1148T>C, XM_011526668.1:c.1148T>C, XM_017026530.3:c.1271T>C, XM_017026530.2:c.1271T>C, XM_017026530.1:c.1271T>C, XM_005258678.3:c.1124T>C, XM_005258678.2:c.1124T>C, XM_005258678.1:c.1124T>C, XM_047438514.1:c.1163T>C, XM_047438517.1:c.719T>C, XM_047438515.1:c.1133T>C, XM_047438516.1:c.1124T>C, XM_047438518.1:c.380T>C, NP_055983.1:p.Leu424Pro, XP_005258734.1:p.Leu383Pro, XP_005258733.1:p.Leu388Pro, XP_006723176.1:p.Leu424Pro, XP_011524972.1:p.Leu374Pro, XP_011524971.1:p.Leu378Pro, XP_011524970.1:p.Leu383Pro, XP_016882019.1:p.Leu424Pro, XP_005258735.1:p.Leu375Pro, XP_047294470.1:p.Leu388Pro, XP_047294473.1:p.Leu240Pro, XP_047294471.1:p.Leu378Pro, XP_047294472.1:p.Leu375Pro, XP_047294474.1:p.Leu127Pro
      3.

      rs1489805463 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTC [Show Flanks]
        Chromosome:
        19:47067830 (GRCh38)
        19:47571088 (GRCh37)
        Canonical SPDI:
        NC_000019.10:47067830:CCTC:CCTCCTC
        Gene:
        ZC3H4 (Varview)
        Functional Consequence:
        inframe_insertion,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCTCCTC=0./0 (ALFA)
        CCT=0.000015/4 (TOPMED)
        HGVS:
        NC_000019.10:g.47067832_47067834dup, NC_000019.9:g.47571089_47571091dup, NG_027798.1:g.50920_50922dup, NM_015168.2:c.2435_2437dup, NM_015168.1:c.2435_2437dup, XM_005258677.5:c.2312_2314dup, XM_005258677.4:c.2312_2314dup, XM_005258677.3:c.2312_2314dup, XM_005258677.2:c.2312_2314dup, XM_005258677.1:c.2312_2314dup, XM_005258676.4:c.2327_2329dup, XM_005258676.3:c.2327_2329dup, XM_005258676.2:c.2327_2329dup, XM_005258676.1:c.2327_2329dup, XM_006723113.4:c.2435_2437dup, XM_006723113.3:c.2435_2437dup, XM_006723113.2:c.2435_2437dup, XM_006723113.1:c.2435_2437dup, XM_011526670.4:c.2285_2287dup, XM_011526670.3:c.2285_2287dup, XM_011526670.2:c.2285_2287dup, XM_011526670.1:c.2285_2287dup, XM_011526669.4:c.2297_2299dup, XM_011526669.3:c.2297_2299dup, XM_011526669.2:c.2297_2299dup, XM_011526669.1:c.2297_2299dup, XM_011526668.4:c.2312_2314dup, XM_011526668.3:c.2312_2314dup, XM_011526668.2:c.2312_2314dup, XM_011526668.1:c.2312_2314dup, XM_017026530.3:c.2183_2185dup, XM_017026530.2:c.2183_2185dup, XM_017026530.1:c.2183_2185dup, XM_005258678.3:c.2288_2290dup, XM_005258678.2:c.2288_2290dup, XM_005258678.1:c.2288_2290dup, XM_047438514.1:c.2075_2077dup, XM_047438517.1:c.1883_1885dup, XM_047438515.1:c.2045_2047dup, XM_047438516.1:c.2036_2038dup, XM_047438518.1:c.1544_1546dup, NP_055983.1:p.Glu812dup, XP_005258734.1:p.Glu771dup, XP_005258733.1:p.Glu776dup, XP_006723176.1:p.Glu812dup, XP_011524972.1:p.Glu762dup, XP_011524971.1:p.Glu766dup, XP_011524970.1:p.Glu771dup, XP_016882019.1:p.Glu728dup, XP_005258735.1:p.Glu763dup, XP_047294470.1:p.Glu692dup, XP_047294473.1:p.Glu628dup, XP_047294471.1:p.Glu682dup, XP_047294472.1:p.Glu679dup, XP_047294474.1:p.Glu515dup
        4.

        rs1489499909 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          19:47094537 (GRCh38)
          19:47597794 (GRCh37)
          Canonical SPDI:
          NC_000019.10:47094536:C:G
          Gene:
          ZC3H4 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000019.10:g.47094537C>G, NC_000019.9:g.47597794C>G, NG_027798.1:g.24216G>C, NM_015168.2:c.233G>C, NM_015168.1:c.233G>C, XM_005258677.5:c.110G>C, XM_005258677.4:c.110G>C, XM_005258677.3:c.110G>C, XM_005258677.2:c.110G>C, XM_005258677.1:c.110G>C, XM_005258676.4:c.125G>C, XM_005258676.3:c.125G>C, XM_005258676.2:c.125G>C, XM_005258676.1:c.125G>C, XM_006723113.4:c.233G>C, XM_006723113.3:c.233G>C, XM_006723113.2:c.233G>C, XM_006723113.1:c.233G>C, XM_011526670.4:c.83G>C, XM_011526670.3:c.83G>C, XM_011526670.2:c.83G>C, XM_011526670.1:c.83G>C, XM_011526669.4:c.95G>C, XM_011526669.3:c.95G>C, XM_011526669.2:c.95G>C, XM_011526669.1:c.95G>C, XM_011526668.4:c.110G>C, XM_011526668.3:c.110G>C, XM_011526668.2:c.110G>C, XM_011526668.1:c.110G>C, XM_017026530.3:c.233G>C, XM_017026530.2:c.233G>C, XM_017026530.1:c.233G>C, XM_005258678.3:c.86G>C, XM_005258678.2:c.86G>C, XM_005258678.1:c.86G>C, XM_047438514.1:c.125G>C, XM_047438517.1:c.-320G>C, XM_047438515.1:c.95G>C, XM_047438516.1:c.86G>C, NP_055983.1:p.Gly78Ala, XP_005258734.1:p.Gly37Ala, XP_005258733.1:p.Gly42Ala, XP_006723176.1:p.Gly78Ala, XP_011524972.1:p.Gly28Ala, XP_011524971.1:p.Gly32Ala, XP_011524970.1:p.Gly37Ala, XP_016882019.1:p.Gly78Ala, XP_005258735.1:p.Gly29Ala, XP_047294470.1:p.Gly42Ala, XP_047294471.1:p.Gly32Ala, XP_047294472.1:p.Gly29Ala
          5.

          rs1489386481 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            19:47090002 (GRCh38)
            19:47593259 (GRCh37)
            Canonical SPDI:
            NC_000019.10:47090001:T:C,NC_000019.10:47090001:T:G
            Gene:
            ZC3H4 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            G=0.003821/7 (Korea1K)
            HGVS:
            NC_000019.10:g.47090002T>C, NC_000019.10:g.47090002T>G, NC_000019.9:g.47593259T>C, NC_000019.9:g.47593259T>G, NG_027798.1:g.28751A>G, NG_027798.1:g.28751A>C, NM_015168.2:c.680A>G, NM_015168.2:c.680A>C, NM_015168.1:c.680A>G, NM_015168.1:c.680A>C, XM_005258677.5:c.557A>G, XM_005258677.5:c.557A>C, XM_005258677.4:c.557A>G, XM_005258677.4:c.557A>C, XM_005258677.3:c.557A>G, XM_005258677.3:c.557A>C, XM_005258677.2:c.557A>G, XM_005258677.2:c.557A>C, XM_005258677.1:c.557A>G, XM_005258677.1:c.557A>C, XM_005258676.4:c.572A>G, XM_005258676.4:c.572A>C, XM_005258676.3:c.572A>G, XM_005258676.3:c.572A>C, XM_005258676.2:c.572A>G, XM_005258676.2:c.572A>C, XM_005258676.1:c.572A>G, XM_005258676.1:c.572A>C, XM_006723113.4:c.680A>G, XM_006723113.4:c.680A>C, XM_006723113.3:c.680A>G, XM_006723113.3:c.680A>C, XM_006723113.2:c.680A>G, XM_006723113.2:c.680A>C, XM_006723113.1:c.680A>G, XM_006723113.1:c.680A>C, XM_011526670.4:c.530A>G, XM_011526670.4:c.530A>C, XM_011526670.3:c.530A>G, XM_011526670.3:c.530A>C, XM_011526670.2:c.530A>G, XM_011526670.2:c.530A>C, XM_011526670.1:c.530A>G, XM_011526670.1:c.530A>C, XM_011526669.4:c.542A>G, XM_011526669.4:c.542A>C, XM_011526669.3:c.542A>G, XM_011526669.3:c.542A>C, XM_011526669.2:c.542A>G, XM_011526669.2:c.542A>C, XM_011526669.1:c.542A>G, XM_011526669.1:c.542A>C, XM_011526668.4:c.557A>G, XM_011526668.4:c.557A>C, XM_011526668.3:c.557A>G, XM_011526668.3:c.557A>C, XM_011526668.2:c.557A>G, XM_011526668.2:c.557A>C, XM_011526668.1:c.557A>G, XM_011526668.1:c.557A>C, XM_017026530.3:c.680A>G, XM_017026530.3:c.680A>C, XM_017026530.2:c.680A>G, XM_017026530.2:c.680A>C, XM_017026530.1:c.680A>G, XM_017026530.1:c.680A>C, XM_005258678.3:c.533A>G, XM_005258678.3:c.533A>C, XM_005258678.2:c.533A>G, XM_005258678.2:c.533A>C, XM_005258678.1:c.533A>G, XM_005258678.1:c.533A>C, XM_047438514.1:c.572A>G, XM_047438514.1:c.572A>C, XM_047438517.1:c.128A>G, XM_047438517.1:c.128A>C, XM_047438515.1:c.542A>G, XM_047438515.1:c.542A>C, XM_047438516.1:c.533A>G, XM_047438516.1:c.533A>C, XM_047438518.1:c.-57A>G, XM_047438518.1:c.-57A>C, NP_055983.1:p.Tyr227Cys, NP_055983.1:p.Tyr227Ser, XP_005258734.1:p.Tyr186Cys, XP_005258734.1:p.Tyr186Ser, XP_005258733.1:p.Tyr191Cys, XP_005258733.1:p.Tyr191Ser, XP_006723176.1:p.Tyr227Cys, XP_006723176.1:p.Tyr227Ser, XP_011524972.1:p.Tyr177Cys, XP_011524972.1:p.Tyr177Ser, XP_011524971.1:p.Tyr181Cys, XP_011524971.1:p.Tyr181Ser, XP_011524970.1:p.Tyr186Cys, XP_011524970.1:p.Tyr186Ser, XP_016882019.1:p.Tyr227Cys, XP_016882019.1:p.Tyr227Ser, XP_005258735.1:p.Tyr178Cys, XP_005258735.1:p.Tyr178Ser, XP_047294470.1:p.Tyr191Cys, XP_047294470.1:p.Tyr191Ser, XP_047294473.1:p.Tyr43Cys, XP_047294473.1:p.Tyr43Ser, XP_047294471.1:p.Tyr181Cys, XP_047294471.1:p.Tyr181Ser, XP_047294472.1:p.Tyr178Cys, XP_047294472.1:p.Tyr178Ser
            6.

            rs1489369330 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              19:47086518 (GRCh38)
              19:47589775 (GRCh37)
              Canonical SPDI:
              NC_000019.10:47086517:C:A,NC_000019.10:47086517:C:T
              Gene:
              ZC3H4 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000019.10:g.47086518C>A, NC_000019.10:g.47086518C>T, NC_000019.9:g.47589775C>A, NC_000019.9:g.47589775C>T, NG_027798.1:g.32235G>T, NG_027798.1:g.32235G>A, NM_015168.2:c.736G>T, NM_015168.2:c.736G>A, NM_015168.1:c.736G>T, NM_015168.1:c.736G>A, XM_005258677.5:c.613G>T, XM_005258677.5:c.613G>A, XM_005258677.4:c.613G>T, XM_005258677.4:c.613G>A, XM_005258677.3:c.613G>T, XM_005258677.3:c.613G>A, XM_005258677.2:c.613G>T, XM_005258677.2:c.613G>A, XM_005258677.1:c.613G>T, XM_005258677.1:c.613G>A, XM_005258676.4:c.628G>T, XM_005258676.4:c.628G>A, XM_005258676.3:c.628G>T, XM_005258676.3:c.628G>A, XM_005258676.2:c.628G>T, XM_005258676.2:c.628G>A, XM_005258676.1:c.628G>T, XM_005258676.1:c.628G>A, XM_006723113.4:c.736G>T, XM_006723113.4:c.736G>A, XM_006723113.3:c.736G>T, XM_006723113.3:c.736G>A, XM_006723113.2:c.736G>T, XM_006723113.2:c.736G>A, XM_006723113.1:c.736G>T, XM_006723113.1:c.736G>A, XM_011526670.4:c.586G>T, XM_011526670.4:c.586G>A, XM_011526670.3:c.586G>T, XM_011526670.3:c.586G>A, XM_011526670.2:c.586G>T, XM_011526670.2:c.586G>A, XM_011526670.1:c.586G>T, XM_011526670.1:c.586G>A, XM_011526669.4:c.598G>T, XM_011526669.4:c.598G>A, XM_011526669.3:c.598G>T, XM_011526669.3:c.598G>A, XM_011526669.2:c.598G>T, XM_011526669.2:c.598G>A, XM_011526669.1:c.598G>T, XM_011526669.1:c.598G>A, XM_011526668.4:c.613G>T, XM_011526668.4:c.613G>A, XM_011526668.3:c.613G>T, XM_011526668.3:c.613G>A, XM_011526668.2:c.613G>T, XM_011526668.2:c.613G>A, XM_011526668.1:c.613G>T, XM_011526668.1:c.613G>A, XM_017026530.3:c.736G>T, XM_017026530.3:c.736G>A, XM_017026530.2:c.736G>T, XM_017026530.2:c.736G>A, XM_017026530.1:c.736G>T, XM_017026530.1:c.736G>A, XM_005258678.3:c.589G>T, XM_005258678.3:c.589G>A, XM_005258678.2:c.589G>T, XM_005258678.2:c.589G>A, XM_005258678.1:c.589G>T, XM_005258678.1:c.589G>A, XM_047438514.1:c.628G>T, XM_047438514.1:c.628G>A, XM_047438517.1:c.184G>T, XM_047438517.1:c.184G>A, XM_047438515.1:c.598G>T, XM_047438515.1:c.598G>A, XM_047438516.1:c.589G>T, XM_047438516.1:c.589G>A, NP_055983.1:p.Gly246Cys, NP_055983.1:p.Gly246Ser, XP_005258734.1:p.Gly205Cys, XP_005258734.1:p.Gly205Ser, XP_005258733.1:p.Gly210Cys, XP_005258733.1:p.Gly210Ser, XP_006723176.1:p.Gly246Cys, XP_006723176.1:p.Gly246Ser, XP_011524972.1:p.Gly196Cys, XP_011524972.1:p.Gly196Ser, XP_011524971.1:p.Gly200Cys, XP_011524971.1:p.Gly200Ser, XP_011524970.1:p.Gly205Cys, XP_011524970.1:p.Gly205Ser, XP_016882019.1:p.Gly246Cys, XP_016882019.1:p.Gly246Ser, XP_005258735.1:p.Gly197Cys, XP_005258735.1:p.Gly197Ser, XP_047294470.1:p.Gly210Cys, XP_047294470.1:p.Gly210Ser, XP_047294473.1:p.Gly62Cys, XP_047294473.1:p.Gly62Ser, XP_047294471.1:p.Gly200Cys, XP_047294471.1:p.Gly200Ser, XP_047294472.1:p.Gly197Cys, XP_047294472.1:p.Gly197Ser
              7.

              rs1489000189 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:47066795 (GRCh38)
                19:47570052 (GRCh37)
                Canonical SPDI:
                NC_000019.10:47066794:C:T
                Gene:
                ZC3H4 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000019.10:g.47066795C>T, NC_000019.9:g.47570052C>T, NG_027798.1:g.51958G>A, NM_015168.2:c.3473G>A, NM_015168.1:c.3473G>A, XM_005258677.5:c.3350G>A, XM_005258677.4:c.3350G>A, XM_005258677.3:c.3350G>A, XM_005258677.2:c.3350G>A, XM_005258677.1:c.3350G>A, XM_005258676.4:c.3365G>A, XM_005258676.3:c.3365G>A, XM_005258676.2:c.3365G>A, XM_005258676.1:c.3365G>A, XM_006723113.4:c.3473G>A, XM_006723113.3:c.3473G>A, XM_006723113.2:c.3473G>A, XM_006723113.1:c.3473G>A, XM_011526670.4:c.3323G>A, XM_011526670.3:c.3323G>A, XM_011526670.2:c.3323G>A, XM_011526670.1:c.3323G>A, XM_011526669.4:c.3335G>A, XM_011526669.3:c.3335G>A, XM_011526669.2:c.3335G>A, XM_011526669.1:c.3335G>A, XM_011526668.4:c.3350G>A, XM_011526668.3:c.3350G>A, XM_011526668.2:c.3350G>A, XM_011526668.1:c.3350G>A, XM_017026530.3:c.3221G>A, XM_017026530.2:c.3221G>A, XM_017026530.1:c.3221G>A, XM_005258678.3:c.3326G>A, XM_005258678.2:c.3326G>A, XM_005258678.1:c.3326G>A, XM_047438514.1:c.3113G>A, XM_047438517.1:c.2921G>A, XM_047438515.1:c.3083G>A, XM_047438516.1:c.3074G>A, XM_047438518.1:c.2582G>A, NP_055983.1:p.Gly1158Asp, XP_005258734.1:p.Gly1117Asp, XP_005258733.1:p.Gly1122Asp, XP_006723176.1:p.Gly1158Asp, XP_011524972.1:p.Gly1108Asp, XP_011524971.1:p.Gly1112Asp, XP_011524970.1:p.Gly1117Asp, XP_016882019.1:p.Gly1074Asp, XP_005258735.1:p.Gly1109Asp, XP_047294470.1:p.Gly1038Asp, XP_047294473.1:p.Gly974Asp, XP_047294471.1:p.Gly1028Asp, XP_047294472.1:p.Gly1025Asp, XP_047294474.1:p.Gly861Asp
                8.

                rs1488816846 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  19:47066401 (GRCh38)
                  19:47569658 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:47066400:A:T
                  Gene:
                  ZC3H4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000019.10:g.47066401A>T, NC_000019.9:g.47569658A>T, NG_027798.1:g.52352T>A, NM_015168.2:c.3867T>A, NM_015168.1:c.3867T>A, XM_005258677.5:c.3744T>A, XM_005258677.4:c.3744T>A, XM_005258677.3:c.3744T>A, XM_005258677.2:c.3744T>A, XM_005258677.1:c.3744T>A, XM_005258676.4:c.3759T>A, XM_005258676.3:c.3759T>A, XM_005258676.2:c.3759T>A, XM_005258676.1:c.3759T>A, XM_006723113.4:c.3867T>A, XM_006723113.3:c.3867T>A, XM_006723113.2:c.3867T>A, XM_006723113.1:c.3867T>A, XM_011526670.4:c.3717T>A, XM_011526670.3:c.3717T>A, XM_011526670.2:c.3717T>A, XM_011526670.1:c.3717T>A, XM_011526669.4:c.3729T>A, XM_011526669.3:c.3729T>A, XM_011526669.2:c.3729T>A, XM_011526669.1:c.3729T>A, XM_011526668.4:c.3744T>A, XM_011526668.3:c.3744T>A, XM_011526668.2:c.3744T>A, XM_011526668.1:c.3744T>A, XM_017026530.3:c.3615T>A, XM_017026530.2:c.3615T>A, XM_017026530.1:c.3615T>A, XM_005258678.3:c.3720T>A, XM_005258678.2:c.3720T>A, XM_005258678.1:c.3720T>A, XM_047438514.1:c.3507T>A, XM_047438517.1:c.3315T>A, XM_047438515.1:c.3477T>A, XM_047438516.1:c.3468T>A, XM_047438518.1:c.2976T>A, NP_055983.1:p.Asp1289Glu, XP_005258734.1:p.Asp1248Glu, XP_005258733.1:p.Asp1253Glu, XP_006723176.1:p.Asp1289Glu, XP_011524972.1:p.Asp1239Glu, XP_011524971.1:p.Asp1243Glu, XP_011524970.1:p.Asp1248Glu, XP_016882019.1:p.Asp1205Glu, XP_005258735.1:p.Asp1240Glu, XP_047294470.1:p.Asp1169Glu, XP_047294473.1:p.Asp1105Glu, XP_047294471.1:p.Asp1159Glu, XP_047294472.1:p.Asp1156Glu, XP_047294474.1:p.Asp992Glu
                  9.

                  rs1486100005 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:47093992 (GRCh38)
                    19:47597249 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:47093991:T:C
                    Gene:
                    ZC3H4 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000051/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.47093992T>C, NC_000019.9:g.47597249T>C, NG_027798.1:g.24761A>G, NM_015168.2:c.470A>G, NM_015168.1:c.470A>G, XM_005258677.5:c.347A>G, XM_005258677.4:c.347A>G, XM_005258677.3:c.347A>G, XM_005258677.2:c.347A>G, XM_005258677.1:c.347A>G, XM_005258676.4:c.362A>G, XM_005258676.3:c.362A>G, XM_005258676.2:c.362A>G, XM_005258676.1:c.362A>G, XM_006723113.4:c.470A>G, XM_006723113.3:c.470A>G, XM_006723113.2:c.470A>G, XM_006723113.1:c.470A>G, XM_011526670.4:c.320A>G, XM_011526670.3:c.320A>G, XM_011526670.2:c.320A>G, XM_011526670.1:c.320A>G, XM_011526669.4:c.332A>G, XM_011526669.3:c.332A>G, XM_011526669.2:c.332A>G, XM_011526669.1:c.332A>G, XM_011526668.4:c.347A>G, XM_011526668.3:c.347A>G, XM_011526668.2:c.347A>G, XM_011526668.1:c.347A>G, XM_017026530.3:c.470A>G, XM_017026530.2:c.470A>G, XM_017026530.1:c.470A>G, XM_005258678.3:c.323A>G, XM_005258678.2:c.323A>G, XM_005258678.1:c.323A>G, XM_047438514.1:c.362A>G, XM_047438517.1:c.-83A>G, XM_047438515.1:c.332A>G, XM_047438516.1:c.323A>G, NP_055983.1:p.Glu157Gly, XP_005258734.1:p.Glu116Gly, XP_005258733.1:p.Glu121Gly, XP_006723176.1:p.Glu157Gly, XP_011524972.1:p.Glu107Gly, XP_011524971.1:p.Glu111Gly, XP_011524970.1:p.Glu116Gly, XP_016882019.1:p.Glu157Gly, XP_005258735.1:p.Glu108Gly, XP_047294470.1:p.Glu121Gly, XP_047294471.1:p.Glu111Gly, XP_047294472.1:p.Glu108Gly
                    10.

                    rs1485853027 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      19:47071954 (GRCh38)
                      19:47575211 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:47071953:C:A
                      Gene:
                      ZC3H4 (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=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000019.10:g.47071954C>A, NC_000019.9:g.47575211C>A, NG_027798.1:g.46799G>T, NM_015168.2:c.1970G>T, NM_015168.1:c.1970G>T, XM_005258677.5:c.1847G>T, XM_005258677.4:c.1847G>T, XM_005258677.3:c.1847G>T, XM_005258677.2:c.1847G>T, XM_005258677.1:c.1847G>T, XM_005258676.4:c.1862G>T, XM_005258676.3:c.1862G>T, XM_005258676.2:c.1862G>T, XM_005258676.1:c.1862G>T, XM_006723113.4:c.1970G>T, XM_006723113.3:c.1970G>T, XM_006723113.2:c.1970G>T, XM_006723113.1:c.1970G>T, XM_011526670.4:c.1820G>T, XM_011526670.3:c.1820G>T, XM_011526670.2:c.1820G>T, XM_011526670.1:c.1820G>T, XM_011526669.4:c.1832G>T, XM_011526669.3:c.1832G>T, XM_011526669.2:c.1832G>T, XM_011526669.1:c.1832G>T, XM_011526668.4:c.1847G>T, XM_011526668.3:c.1847G>T, XM_011526668.2:c.1847G>T, XM_011526668.1:c.1847G>T, XM_017026530.3:c.1970G>T, XM_017026530.2:c.1970G>T, XM_017026530.1:c.1970G>T, XM_005258678.3:c.1823G>T, XM_005258678.2:c.1823G>T, XM_005258678.1:c.1823G>T, XM_047438514.1:c.1862G>T, XM_047438517.1:c.1418G>T, XM_047438515.1:c.1832G>T, XM_047438516.1:c.1823G>T, XM_047438518.1:c.1079G>T, NP_055983.1:p.Gly657Val, XP_005258734.1:p.Gly616Val, XP_005258733.1:p.Gly621Val, XP_006723176.1:p.Gly657Val, XP_011524972.1:p.Gly607Val, XP_011524971.1:p.Gly611Val, XP_011524970.1:p.Gly616Val, XP_016882019.1:p.Gly657Val, XP_005258735.1:p.Gly608Val, XP_047294470.1:p.Gly621Val, XP_047294473.1:p.Gly473Val, XP_047294471.1:p.Gly611Val, XP_047294472.1:p.Gly608Val, XP_047294474.1:p.Gly360Val
                      11.
                      12.

                      rs1484383524 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:47071883 (GRCh38)
                        19:47575140 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:47071882:G:A
                        Gene:
                        ZC3H4 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.47071883G>A, NC_000019.9:g.47575140G>A, NG_027798.1:g.46870C>T, NM_015168.2:c.2041C>T, NM_015168.1:c.2041C>T, XM_005258677.5:c.1918C>T, XM_005258677.4:c.1918C>T, XM_005258677.3:c.1918C>T, XM_005258677.2:c.1918C>T, XM_005258677.1:c.1918C>T, XM_005258676.4:c.1933C>T, XM_005258676.3:c.1933C>T, XM_005258676.2:c.1933C>T, XM_005258676.1:c.1933C>T, XM_006723113.4:c.2041C>T, XM_006723113.3:c.2041C>T, XM_006723113.2:c.2041C>T, XM_006723113.1:c.2041C>T, XM_011526670.4:c.1891C>T, XM_011526670.3:c.1891C>T, XM_011526670.2:c.1891C>T, XM_011526670.1:c.1891C>T, XM_011526669.4:c.1903C>T, XM_011526669.3:c.1903C>T, XM_011526669.2:c.1903C>T, XM_011526669.1:c.1903C>T, XM_011526668.4:c.1918C>T, XM_011526668.3:c.1918C>T, XM_011526668.2:c.1918C>T, XM_011526668.1:c.1918C>T, XM_017026530.3:c.2041C>T, XM_017026530.2:c.2041C>T, XM_017026530.1:c.2041C>T, XM_005258678.3:c.1894C>T, XM_005258678.2:c.1894C>T, XM_005258678.1:c.1894C>T, XM_047438514.1:c.1933C>T, XM_047438517.1:c.1489C>T, XM_047438515.1:c.1903C>T, XM_047438516.1:c.1894C>T, XM_047438518.1:c.1150C>T, NP_055983.1:p.His681Tyr, XP_005258734.1:p.His640Tyr, XP_005258733.1:p.His645Tyr, XP_006723176.1:p.His681Tyr, XP_011524972.1:p.His631Tyr, XP_011524971.1:p.His635Tyr, XP_011524970.1:p.His640Tyr, XP_016882019.1:p.His681Tyr, XP_005258735.1:p.His632Tyr, XP_047294470.1:p.His645Tyr, XP_047294473.1:p.His497Tyr, XP_047294471.1:p.His635Tyr, XP_047294472.1:p.His632Tyr, XP_047294474.1:p.His384Tyr
                        16.

                        rs1481734457 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          19:47072594 (GRCh38)
                          19:47575851 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:47072593:A:C,NC_000019.10:47072593:A:G
                          Gene:
                          ZC3H4 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.00381/68 (ALFA)
                          G=0.01724/50 (KOREAN)
                          HGVS:
                          NC_000019.10:g.47072594A>C, NC_000019.10:g.47072594A>G, NC_000019.9:g.47575851A>C, NC_000019.9:g.47575851A>G, NG_027798.1:g.46159T>G, NG_027798.1:g.46159T>C, NM_015168.2:c.1560T>G, NM_015168.2:c.1560T>C, NM_015168.1:c.1560T>G, NM_015168.1:c.1560T>C, XM_005258677.5:c.1437T>G, XM_005258677.5:c.1437T>C, XM_005258677.4:c.1437T>G, XM_005258677.4:c.1437T>C, XM_005258677.3:c.1437T>G, XM_005258677.3:c.1437T>C, XM_005258677.2:c.1437T>G, XM_005258677.2:c.1437T>C, XM_005258677.1:c.1437T>G, XM_005258677.1:c.1437T>C, XM_005258676.4:c.1452T>G, XM_005258676.4:c.1452T>C, XM_005258676.3:c.1452T>G, XM_005258676.3:c.1452T>C, XM_005258676.2:c.1452T>G, XM_005258676.2:c.1452T>C, XM_005258676.1:c.1452T>G, XM_005258676.1:c.1452T>C, XM_006723113.4:c.1560T>G, XM_006723113.4:c.1560T>C, XM_006723113.3:c.1560T>G, XM_006723113.3:c.1560T>C, XM_006723113.2:c.1560T>G, XM_006723113.2:c.1560T>C, XM_006723113.1:c.1560T>G, XM_006723113.1:c.1560T>C, XM_011526670.4:c.1410T>G, XM_011526670.4:c.1410T>C, XM_011526670.3:c.1410T>G, XM_011526670.3:c.1410T>C, XM_011526670.2:c.1410T>G, XM_011526670.2:c.1410T>C, XM_011526670.1:c.1410T>G, XM_011526670.1:c.1410T>C, XM_011526669.4:c.1422T>G, XM_011526669.4:c.1422T>C, XM_011526669.3:c.1422T>G, XM_011526669.3:c.1422T>C, XM_011526669.2:c.1422T>G, XM_011526669.2:c.1422T>C, XM_011526669.1:c.1422T>G, XM_011526669.1:c.1422T>C, XM_011526668.4:c.1437T>G, XM_011526668.4:c.1437T>C, XM_011526668.3:c.1437T>G, XM_011526668.3:c.1437T>C, XM_011526668.2:c.1437T>G, XM_011526668.2:c.1437T>C, XM_011526668.1:c.1437T>G, XM_011526668.1:c.1437T>C, XM_017026530.3:c.1560T>G, XM_017026530.3:c.1560T>C, XM_017026530.2:c.1560T>G, XM_017026530.2:c.1560T>C, XM_017026530.1:c.1560T>G, XM_017026530.1:c.1560T>C, XM_005258678.3:c.1413T>G, XM_005258678.3:c.1413T>C, XM_005258678.2:c.1413T>G, XM_005258678.2:c.1413T>C, XM_005258678.1:c.1413T>G, XM_005258678.1:c.1413T>C, XM_047438514.1:c.1452T>G, XM_047438514.1:c.1452T>C, XM_047438517.1:c.1008T>G, XM_047438517.1:c.1008T>C, XM_047438515.1:c.1422T>G, XM_047438515.1:c.1422T>C, XM_047438516.1:c.1413T>G, XM_047438516.1:c.1413T>C, XM_047438518.1:c.669T>G, XM_047438518.1:c.669T>C
                          17.

                          rs1480502085 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            19:47066938 (GRCh38)
                            19:47570195 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:47066937:A:C
                            Gene:
                            ZC3H4 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.47066938A>C, NC_000019.9:g.47570195A>C, NG_027798.1:g.51815T>G, NM_015168.2:c.3330T>G, NM_015168.1:c.3330T>G, XM_005258677.5:c.3207T>G, XM_005258677.4:c.3207T>G, XM_005258677.3:c.3207T>G, XM_005258677.2:c.3207T>G, XM_005258677.1:c.3207T>G, XM_005258676.4:c.3222T>G, XM_005258676.3:c.3222T>G, XM_005258676.2:c.3222T>G, XM_005258676.1:c.3222T>G, XM_006723113.4:c.3330T>G, XM_006723113.3:c.3330T>G, XM_006723113.2:c.3330T>G, XM_006723113.1:c.3330T>G, XM_011526670.4:c.3180T>G, XM_011526670.3:c.3180T>G, XM_011526670.2:c.3180T>G, XM_011526670.1:c.3180T>G, XM_011526669.4:c.3192T>G, XM_011526669.3:c.3192T>G, XM_011526669.2:c.3192T>G, XM_011526669.1:c.3192T>G, XM_011526668.4:c.3207T>G, XM_011526668.3:c.3207T>G, XM_011526668.2:c.3207T>G, XM_011526668.1:c.3207T>G, XM_017026530.3:c.3078T>G, XM_017026530.2:c.3078T>G, XM_017026530.1:c.3078T>G, XM_005258678.3:c.3183T>G, XM_005258678.2:c.3183T>G, XM_005258678.1:c.3183T>G, XM_047438514.1:c.2970T>G, XM_047438517.1:c.2778T>G, XM_047438515.1:c.2940T>G, XM_047438516.1:c.2931T>G, XM_047438518.1:c.2439T>G, NP_055983.1:p.Ser1110Arg, XP_005258734.1:p.Ser1069Arg, XP_005258733.1:p.Ser1074Arg, XP_006723176.1:p.Ser1110Arg, XP_011524972.1:p.Ser1060Arg, XP_011524971.1:p.Ser1064Arg, XP_011524970.1:p.Ser1069Arg, XP_016882019.1:p.Ser1026Arg, XP_005258735.1:p.Ser1061Arg, XP_047294470.1:p.Ser990Arg, XP_047294473.1:p.Ser926Arg, XP_047294471.1:p.Ser980Arg, XP_047294472.1:p.Ser977Arg, XP_047294474.1:p.Ser813Arg
                            18.

                            rs1479148504 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:47069149 (GRCh38)
                              19:47572406 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:47069148:C:T
                              Gene:
                              ZC3H4 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.47069149C>T, NC_000019.9:g.47572406C>T, NG_027798.1:g.49604G>A, NM_015168.2:c.2341G>A, NM_015168.1:c.2341G>A, XM_005258677.5:c.2218G>A, XM_005258677.4:c.2218G>A, XM_005258677.3:c.2218G>A, XM_005258677.2:c.2218G>A, XM_005258677.1:c.2218G>A, XM_005258676.4:c.2233G>A, XM_005258676.3:c.2233G>A, XM_005258676.2:c.2233G>A, XM_005258676.1:c.2233G>A, XM_006723113.4:c.2341G>A, XM_006723113.3:c.2341G>A, XM_006723113.2:c.2341G>A, XM_006723113.1:c.2341G>A, XM_011526670.4:c.2191G>A, XM_011526670.3:c.2191G>A, XM_011526670.2:c.2191G>A, XM_011526670.1:c.2191G>A, XM_011526669.4:c.2203G>A, XM_011526669.3:c.2203G>A, XM_011526669.2:c.2203G>A, XM_011526669.1:c.2203G>A, XM_011526668.4:c.2218G>A, XM_011526668.3:c.2218G>A, XM_011526668.2:c.2218G>A, XM_011526668.1:c.2218G>A, XM_005258678.3:c.2194G>A, XM_005258678.2:c.2194G>A, XM_005258678.1:c.2194G>A, XM_047438517.1:c.1789G>A, XM_047438518.1:c.1450G>A, NP_055983.1:p.Glu781Lys, XP_005258734.1:p.Glu740Lys, XP_005258733.1:p.Glu745Lys, XP_006723176.1:p.Glu781Lys, XP_011524972.1:p.Glu731Lys, XP_011524971.1:p.Glu735Lys, XP_011524970.1:p.Glu740Lys, XP_005258735.1:p.Glu732Lys, XP_047294473.1:p.Glu597Lys, XP_047294474.1:p.Glu484Lys
                              19.

                              rs1477939433 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:47084388 (GRCh38)
                                19:47587645 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:47084387:C:G
                                Gene:
                                ZC3H4 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.00003/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.47084388C>G, NC_000019.9:g.47587645C>G, NG_027798.1:g.34365G>C, NM_015168.2:c.1175G>C, NM_015168.1:c.1175G>C, XM_005258677.5:c.1052G>C, XM_005258677.4:c.1052G>C, XM_005258677.3:c.1052G>C, XM_005258677.2:c.1052G>C, XM_005258677.1:c.1052G>C, XM_005258676.4:c.1067G>C, XM_005258676.3:c.1067G>C, XM_005258676.2:c.1067G>C, XM_005258676.1:c.1067G>C, XM_006723113.4:c.1175G>C, XM_006723113.3:c.1175G>C, XM_006723113.2:c.1175G>C, XM_006723113.1:c.1175G>C, XM_011526670.4:c.1025G>C, XM_011526670.3:c.1025G>C, XM_011526670.2:c.1025G>C, XM_011526670.1:c.1025G>C, XM_011526669.4:c.1037G>C, XM_011526669.3:c.1037G>C, XM_011526669.2:c.1037G>C, XM_011526669.1:c.1037G>C, XM_011526668.4:c.1052G>C, XM_011526668.3:c.1052G>C, XM_011526668.2:c.1052G>C, XM_011526668.1:c.1052G>C, XM_017026530.3:c.1175G>C, XM_017026530.2:c.1175G>C, XM_017026530.1:c.1175G>C, XM_005258678.3:c.1028G>C, XM_005258678.2:c.1028G>C, XM_005258678.1:c.1028G>C, XM_047438514.1:c.1067G>C, XM_047438517.1:c.623G>C, XM_047438515.1:c.1037G>C, XM_047438516.1:c.1028G>C, XM_047438518.1:c.284G>C, NP_055983.1:p.Gly392Ala, XP_005258734.1:p.Gly351Ala, XP_005258733.1:p.Gly356Ala, XP_006723176.1:p.Gly392Ala, XP_011524972.1:p.Gly342Ala, XP_011524971.1:p.Gly346Ala, XP_011524970.1:p.Gly351Ala, XP_016882019.1:p.Gly392Ala, XP_005258735.1:p.Gly343Ala, XP_047294470.1:p.Gly356Ala, XP_047294473.1:p.Gly208Ala, XP_047294471.1:p.Gly346Ala, XP_047294472.1:p.Gly343Ala, XP_047294474.1:p.Gly95Ala
                                20.

                                rs1477748474 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  19:47067732 (GRCh38)
                                  19:47570989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:47067731:C:A,NC_000019.10:47067731:C:G
                                  Gene:
                                  ZC3H4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  A=0.000009/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.47067732C>A, NC_000019.10:g.47067732C>G, NC_000019.9:g.47570989C>A, NC_000019.9:g.47570989C>G, NG_027798.1:g.51021G>T, NG_027798.1:g.51021G>C, NM_015168.2:c.2536G>T, NM_015168.2:c.2536G>C, NM_015168.1:c.2536G>T, NM_015168.1:c.2536G>C, XM_005258677.5:c.2413G>T, XM_005258677.5:c.2413G>C, XM_005258677.4:c.2413G>T, XM_005258677.4:c.2413G>C, XM_005258677.3:c.2413G>T, XM_005258677.3:c.2413G>C, XM_005258677.2:c.2413G>T, XM_005258677.2:c.2413G>C, XM_005258677.1:c.2413G>T, XM_005258677.1:c.2413G>C, XM_005258676.4:c.2428G>T, XM_005258676.4:c.2428G>C, XM_005258676.3:c.2428G>T, XM_005258676.3:c.2428G>C, XM_005258676.2:c.2428G>T, XM_005258676.2:c.2428G>C, XM_005258676.1:c.2428G>T, XM_005258676.1:c.2428G>C, XM_006723113.4:c.2536G>T, XM_006723113.4:c.2536G>C, XM_006723113.3:c.2536G>T, XM_006723113.3:c.2536G>C, XM_006723113.2:c.2536G>T, XM_006723113.2:c.2536G>C, XM_006723113.1:c.2536G>T, XM_006723113.1:c.2536G>C, XM_011526670.4:c.2386G>T, XM_011526670.4:c.2386G>C, XM_011526670.3:c.2386G>T, XM_011526670.3:c.2386G>C, XM_011526670.2:c.2386G>T, XM_011526670.2:c.2386G>C, XM_011526670.1:c.2386G>T, XM_011526670.1:c.2386G>C, XM_011526669.4:c.2398G>T, XM_011526669.4:c.2398G>C, XM_011526669.3:c.2398G>T, XM_011526669.3:c.2398G>C, XM_011526669.2:c.2398G>T, XM_011526669.2:c.2398G>C, XM_011526669.1:c.2398G>T, XM_011526669.1:c.2398G>C, XM_011526668.4:c.2413G>T, XM_011526668.4:c.2413G>C, XM_011526668.3:c.2413G>T, XM_011526668.3:c.2413G>C, XM_011526668.2:c.2413G>T, XM_011526668.2:c.2413G>C, XM_011526668.1:c.2413G>T, XM_011526668.1:c.2413G>C, XM_017026530.3:c.2284G>T, XM_017026530.3:c.2284G>C, XM_017026530.2:c.2284G>T, XM_017026530.2:c.2284G>C, XM_017026530.1:c.2284G>T, XM_017026530.1:c.2284G>C, XM_005258678.3:c.2389G>T, XM_005258678.3:c.2389G>C, XM_005258678.2:c.2389G>T, XM_005258678.2:c.2389G>C, XM_005258678.1:c.2389G>T, XM_005258678.1:c.2389G>C, XM_047438514.1:c.2176G>T, XM_047438514.1:c.2176G>C, XM_047438517.1:c.1984G>T, XM_047438517.1:c.1984G>C, XM_047438515.1:c.2146G>T, XM_047438515.1:c.2146G>C, XM_047438516.1:c.2137G>T, XM_047438516.1:c.2137G>C, XM_047438518.1:c.1645G>T, XM_047438518.1:c.1645G>C, NP_055983.1:p.Asp846Tyr, NP_055983.1:p.Asp846His, XP_005258734.1:p.Asp805Tyr, XP_005258734.1:p.Asp805His, XP_005258733.1:p.Asp810Tyr, XP_005258733.1:p.Asp810His, XP_006723176.1:p.Asp846Tyr, XP_006723176.1:p.Asp846His, XP_011524972.1:p.Asp796Tyr, XP_011524972.1:p.Asp796His, XP_011524971.1:p.Asp800Tyr, XP_011524971.1:p.Asp800His, XP_011524970.1:p.Asp805Tyr, XP_011524970.1:p.Asp805His, XP_016882019.1:p.Asp762Tyr, XP_016882019.1:p.Asp762His, XP_005258735.1:p.Asp797Tyr, XP_005258735.1:p.Asp797His, XP_047294470.1:p.Asp726Tyr, XP_047294470.1:p.Asp726His, XP_047294473.1:p.Asp662Tyr, XP_047294473.1:p.Asp662His, XP_047294471.1:p.Asp716Tyr, XP_047294471.1:p.Asp716His, XP_047294472.1:p.Asp713Tyr, XP_047294472.1:p.Asp713His, XP_047294474.1:p.Asp549Tyr, XP_047294474.1:p.Asp549His

                                  Display Settings:

                                  Format
                                  Items per page
                                  Sort by

                                  Send to:

                                  Choose Destination

                                  Supplemental Content

                                  Find related data

                                  Recent activity

                                  Your browsing activity is empty.

                                  Activity recording is turned off.

                                  Turn recording back on

                                  See more...