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Items: 1 to 20 of 629

1.

rs1487407299 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    20:34876711 (GRCh38)
    20:33464514 (GRCh37)
    Canonical SPDI:
    NC_000020.11:34876710:C:A,NC_000020.11:34876710:C:G
    Gene:
    ACSS2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000020.11:g.34876711C>A, NC_000020.11:g.34876711C>G, NC_000020.10:g.33464514C>A, NC_000020.10:g.33464514C>G, NG_011520.1:g.6770C>A, NG_011520.1:g.6770C>G, NM_018677.4:c.66C>A, NM_018677.4:c.66C>G, NM_018677.3:c.66C>A, NM_018677.3:c.66C>G, NM_001076552.3:c.66C>A, NM_001076552.3:c.66C>G, NM_001076552.2:c.66C>A, NM_001076552.2:c.66C>G, XM_005260455.3:c.66C>A, XM_005260455.3:c.66C>G, XM_005260455.2:c.66C>A, XM_005260455.2:c.66C>G, XM_005260455.1:c.66C>A, XM_005260455.1:c.66C>G, XM_005260456.3:c.66C>A, XM_005260456.3:c.66C>G, XM_005260456.2:c.66C>A, XM_005260456.2:c.66C>G, XM_005260456.1:c.66C>A, XM_005260456.1:c.66C>G, XM_011528905.2:c.66C>A, XM_011528905.2:c.66C>G, XM_011528905.1:c.66C>A, XM_011528905.1:c.66C>G, XM_011528906.2:c.66C>A, XM_011528906.2:c.66C>G, XM_011528906.1:c.66C>A, XM_011528906.1:c.66C>G, XM_011528907.2:c.66C>A, XM_011528907.2:c.66C>G, XM_011528907.1:c.66C>A, XM_011528907.1:c.66C>G, XM_011528908.2:c.66C>A, XM_011528908.2:c.66C>G, XM_011528908.1:c.66C>A, XM_011528908.1:c.66C>G

    2.

    rs1483937871 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      20:34882798 (GRCh38)
      20:33470601 (GRCh37)
      Canonical SPDI:
      NC_000020.11:34882797:C:A
      Gene:
      ACSS2 (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.34882798C>A, NC_000020.10:g.33470601C>A, NG_011520.1:g.12857C>A, NM_018677.4:c.183C>A, NM_018677.3:c.183C>A, NM_001076552.3:c.183C>A, NM_001076552.2:c.183C>A, NM_001242393.2:c.-103C>A, NM_001242393.1:c.-103C>A, XM_005260455.3:c.183C>A, XM_005260455.2:c.183C>A, XM_005260455.1:c.183C>A, XM_011528909.3:c.33C>A, XM_011528909.2:c.33C>A, XM_011528909.1:c.33C>A, XM_005260456.3:c.183C>A, XM_005260456.2:c.183C>A, XM_005260456.1:c.183C>A, XM_011528905.2:c.183C>A, XM_011528905.1:c.183C>A, XM_011528906.2:c.183C>A, XM_011528906.1:c.183C>A, XM_011528907.2:c.183C>A, XM_011528907.1:c.183C>A, XM_011528908.2:c.183C>A, XM_011528908.1:c.183C>A, XM_011528911.2:c.33C>A, XM_011528911.1:c.33C>A, NR_028046.1:n.180C>A, XM_047440293.1:c.33C>A, XM_047440294.1:c.33C>A, NM_139274.1:c.-103C>A, NP_061147.1:p.Phe61Leu, NP_001070020.2:p.Phe61Leu, XP_005260512.1:p.Phe61Leu, XP_011527211.1:p.Phe11Leu, XP_005260513.1:p.Phe61Leu, XP_011527207.1:p.Phe61Leu, XP_011527208.1:p.Phe61Leu, XP_011527209.1:p.Phe61Leu, XP_011527210.1:p.Phe61Leu, XP_011527213.1:p.Phe11Leu, XP_047296249.1:p.Phe11Leu, XP_047296250.1:p.Phe11Leu

      3.

      rs1482056196 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:34926901 (GRCh38)
        20:33514704 (GRCh37)
        Canonical SPDI:
        NC_000020.11:34926900:C:T
        Gene:
        ACSS2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.34926901C>T, NC_000020.10:g.33514704C>T, NG_008848.2:g.34127G>A, NG_011520.1:g.56960C>T, NM_018677.4:c.1928C>T, NM_018677.3:c.1928C>T, NM_001076552.3:c.1967C>T, NM_001076552.2:c.1967C>T, NM_001242393.2:c.1643C>T, NM_001242393.1:c.1643C>T, XM_005260455.3:c.1997C>T, XM_005260455.2:c.1997C>T, XM_005260455.1:c.1997C>T, XM_011528909.3:c.1886C>T, XM_011528909.2:c.1886C>T, XM_011528909.1:c.1886C>T, XM_005260456.3:c.1958C>T, XM_005260456.2:c.1958C>T, XM_005260456.1:c.1958C>T, XM_011528905.2:c.2036C>T, XM_011528905.1:c.2036C>T, XM_011528906.2:c.2006C>T, XM_011528906.1:c.2006C>T, XM_011528907.2:c.1997C>T, XM_011528907.1:c.1997C>T, XM_011528908.2:c.1967C>T, XM_011528908.1:c.1967C>T, XM_011528911.2:c.1847C>T, XM_011528911.1:c.1847C>T, NR_028046.1:n.1925C>T, XM_047440293.1:c.1808C>T, XM_047440294.1:c.1778C>T, NM_139274.1:c.1643C>T, NP_061147.1:p.Ala643Val, NP_001070020.2:p.Ala656Val, NP_001229322.1:p.Ala548Val, XP_005260512.1:p.Ala666Val, XP_011527211.1:p.Ala629Val, XP_005260513.1:p.Ala653Val, XP_011527207.1:p.Ala679Val, XP_011527208.1:p.Ala669Val, XP_011527209.1:p.Ala666Val, XP_011527210.1:p.Ala656Val, XP_011527213.1:p.Ala616Val, XP_047296249.1:p.Ala603Val, XP_047296250.1:p.Ala593Val

        4.

        rs1477355430 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          20:34927167 (GRCh38)
          20:33514970 (GRCh37)
          Canonical SPDI:
          NC_000020.11:34927166:T:C,NC_000020.11:34927166:T:G
          Gene:
          ACSS2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.00005/1 (ALFA)
          HGVS:
          NC_000020.11:g.34927167T>C, NC_000020.11:g.34927167T>G, NC_000020.10:g.33514970T>C, NC_000020.10:g.33514970T>G, NG_008848.2:g.33861A>G, NG_008848.2:g.33861A>C, NG_011520.1:g.57226T>C, NG_011520.1:g.57226T>G, NM_018677.4:c.2059T>C, NM_018677.4:c.2059T>G, NM_018677.3:c.2059T>C, NM_018677.3:c.2059T>G, NM_001076552.3:c.2098T>C, NM_001076552.3:c.2098T>G, NM_001076552.2:c.2098T>C, NM_001076552.2:c.2098T>G, NM_001242393.2:c.1774T>C, NM_001242393.2:c.1774T>G, NM_001242393.1:c.1774T>C, NM_001242393.1:c.1774T>G, XM_005260455.3:c.2128T>C, XM_005260455.3:c.2128T>G, XM_005260455.2:c.2128T>C, XM_005260455.2:c.2128T>G, XM_005260455.1:c.2128T>C, XM_005260455.1:c.2128T>G, XM_011528909.3:c.2017T>C, XM_011528909.3:c.2017T>G, XM_011528909.2:c.2017T>C, XM_011528909.2:c.2017T>G, XM_011528909.1:c.2017T>C, XM_011528909.1:c.2017T>G, XM_005260456.3:c.2089T>C, XM_005260456.3:c.2089T>G, XM_005260456.2:c.2089T>C, XM_005260456.2:c.2089T>G, XM_005260456.1:c.2089T>C, XM_005260456.1:c.2089T>G, XM_011528905.2:c.2167T>C, XM_011528905.2:c.2167T>G, XM_011528905.1:c.2167T>C, XM_011528905.1:c.2167T>G, XM_011528906.2:c.2137T>C, XM_011528906.2:c.2137T>G, XM_011528906.1:c.2137T>C, XM_011528906.1:c.2137T>G, XM_011528907.2:c.2128T>C, XM_011528907.2:c.2128T>G, XM_011528907.1:c.2128T>C, XM_011528907.1:c.2128T>G, XM_011528908.2:c.2098T>C, XM_011528908.2:c.2098T>G, XM_011528908.1:c.2098T>C, XM_011528908.1:c.2098T>G, XM_011528911.2:c.1978T>C, XM_011528911.2:c.1978T>G, XM_011528911.1:c.1978T>C, XM_011528911.1:c.1978T>G, NR_028046.1:n.2056T>C, NR_028046.1:n.2056T>G, XM_047440293.1:c.1939T>C, XM_047440293.1:c.1939T>G, XM_047440294.1:c.1909T>C, XM_047440294.1:c.1909T>G, NM_139274.1:c.1774T>C, NM_139274.1:c.1774T>G, NP_061147.1:p.Ser687Pro, NP_061147.1:p.Ser687Ala, NP_001070020.2:p.Ser700Pro, NP_001070020.2:p.Ser700Ala, NP_001229322.1:p.Ser592Pro, NP_001229322.1:p.Ser592Ala, XP_005260512.1:p.Ser710Pro, XP_005260512.1:p.Ser710Ala, XP_011527211.1:p.Ser673Pro, XP_011527211.1:p.Ser673Ala, XP_005260513.1:p.Ser697Pro, XP_005260513.1:p.Ser697Ala, XP_011527207.1:p.Ser723Pro, XP_011527207.1:p.Ser723Ala, XP_011527208.1:p.Ser713Pro, XP_011527208.1:p.Ser713Ala, XP_011527209.1:p.Ser710Pro, XP_011527209.1:p.Ser710Ala, XP_011527210.1:p.Ser700Pro, XP_011527210.1:p.Ser700Ala, XP_011527213.1:p.Ser660Pro, XP_011527213.1:p.Ser660Ala, XP_047296249.1:p.Ser647Pro, XP_047296249.1:p.Ser647Ala, XP_047296250.1:p.Ser637Pro, XP_047296250.1:p.Ser637Ala

          5.

          rs1476831770 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            20:34919515 (GRCh38)
            20:33507318 (GRCh37)
            Canonical SPDI:
            NC_000020.11:34919514:T:G
            Gene:
            ACSS2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000020.11:g.34919515T>G, NC_000020.10:g.33507318T>G, NG_011520.1:g.49574T>G, NM_018677.4:c.915T>G, NM_018677.3:c.915T>G, NM_001076552.3:c.954T>G, NM_001076552.2:c.954T>G, NM_001242393.2:c.630T>G, NM_001242393.1:c.630T>G, XM_005260455.3:c.954T>G, XM_005260455.2:c.954T>G, XM_005260455.1:c.954T>G, XM_011528909.3:c.843T>G, XM_011528909.2:c.843T>G, XM_011528909.1:c.843T>G, XM_005260456.3:c.915T>G, XM_005260456.2:c.915T>G, XM_005260456.1:c.915T>G, XM_011528905.2:c.993T>G, XM_011528905.1:c.993T>G, XM_011528906.2:c.993T>G, XM_011528906.1:c.993T>G, XM_011528907.2:c.954T>G, XM_011528907.1:c.954T>G, XM_011528908.2:c.954T>G, XM_011528908.1:c.954T>G, XM_011528911.2:c.804T>G, XM_011528911.1:c.804T>G, NR_028046.1:n.912T>G, XM_047440293.1:c.765T>G, XM_047440294.1:c.765T>G, NM_139274.1:c.630T>G, NP_061147.1:p.Cys305Trp, NP_001070020.2:p.Cys318Trp, NP_001229322.1:p.Cys210Trp, XP_005260512.1:p.Cys318Trp, XP_011527211.1:p.Cys281Trp, XP_005260513.1:p.Cys305Trp, XP_011527207.1:p.Cys331Trp, XP_011527208.1:p.Cys331Trp, XP_011527209.1:p.Cys318Trp, XP_011527210.1:p.Cys318Trp, XP_011527213.1:p.Cys268Trp, XP_047296249.1:p.Cys255Trp, XP_047296250.1:p.Cys255Trp

            6.

            rs1472185703 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              20:34921812 (GRCh38)
              20:33509615 (GRCh37)
              Canonical SPDI:
              NC_000020.11:34921811:T:C
              Gene:
              ACSS2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.34921812T>C, NC_000020.10:g.33509615T>C, NG_011520.1:g.51871T>C, NM_018677.4:c.1494T>C, NM_018677.3:c.1494T>C, NM_001076552.3:c.1533T>C, NM_001076552.2:c.1533T>C, NM_001242393.2:c.1209T>C, NM_001242393.1:c.1209T>C, XM_005260455.3:c.1533T>C, XM_005260455.2:c.1533T>C, XM_005260455.1:c.1533T>C, XM_011528909.3:c.1422T>C, XM_011528909.2:c.1422T>C, XM_011528909.1:c.1422T>C, XM_005260456.3:c.1494T>C, XM_005260456.2:c.1494T>C, XM_005260456.1:c.1494T>C, XM_011528905.2:c.1572T>C, XM_011528905.1:c.1572T>C, XM_011528906.2:c.1572T>C, XM_011528906.1:c.1572T>C, XM_011528907.2:c.1533T>C, XM_011528907.1:c.1533T>C, XM_011528908.2:c.1533T>C, XM_011528908.1:c.1533T>C, XM_011528911.2:c.1383T>C, XM_011528911.1:c.1383T>C, NR_028046.1:n.1491T>C, XM_047440293.1:c.1344T>C, XM_047440294.1:c.1344T>C, NM_139274.1:c.1209T>C

              7.

              rs1470224956 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                20:34876803 (GRCh38)
                20:33464606 (GRCh37)
                Canonical SPDI:
                NC_000020.11:34876802:G:A,NC_000020.11:34876802:G:T
                Gene:
                ACSS2 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000020.11:g.34876803G>A, NC_000020.11:g.34876803G>T, NC_000020.10:g.33464606G>A, NC_000020.10:g.33464606G>T, NG_011520.1:g.6862G>A, NG_011520.1:g.6862G>T, NM_018677.4:c.158G>A, NM_018677.4:c.158G>T, NM_018677.3:c.158G>A, NM_018677.3:c.158G>T, NM_001076552.3:c.158G>A, NM_001076552.3:c.158G>T, NM_001076552.2:c.158G>A, NM_001076552.2:c.158G>T, XM_005260455.3:c.158G>A, XM_005260455.3:c.158G>T, XM_005260455.2:c.158G>A, XM_005260455.2:c.158G>T, XM_005260455.1:c.158G>A, XM_005260455.1:c.158G>T, XM_005260456.3:c.158G>A, XM_005260456.3:c.158G>T, XM_005260456.2:c.158G>A, XM_005260456.2:c.158G>T, XM_005260456.1:c.158G>A, XM_005260456.1:c.158G>T, XM_011528905.2:c.158G>A, XM_011528905.2:c.158G>T, XM_011528905.1:c.158G>A, XM_011528905.1:c.158G>T, XM_011528906.2:c.158G>A, XM_011528906.2:c.158G>T, XM_011528906.1:c.158G>A, XM_011528906.1:c.158G>T, XM_011528907.2:c.158G>A, XM_011528907.2:c.158G>T, XM_011528907.1:c.158G>A, XM_011528907.1:c.158G>T, XM_011528908.2:c.158G>A, XM_011528908.2:c.158G>T, XM_011528908.1:c.158G>A, XM_011528908.1:c.158G>T, NP_061147.1:p.Arg53His, NP_061147.1:p.Arg53Leu, NP_001070020.2:p.Arg53His, NP_001070020.2:p.Arg53Leu, XP_005260512.1:p.Arg53His, XP_005260512.1:p.Arg53Leu, XP_005260513.1:p.Arg53His, XP_005260513.1:p.Arg53Leu, XP_011527207.1:p.Arg53His, XP_011527207.1:p.Arg53Leu, XP_011527208.1:p.Arg53His, XP_011527208.1:p.Arg53Leu, XP_011527209.1:p.Arg53His, XP_011527209.1:p.Arg53Leu, XP_011527210.1:p.Arg53His, XP_011527210.1:p.Arg53Leu

                8.

                rs1468271250 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  20:34882872 (GRCh38)
                  20:33470675 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:34882871:T:A
                  Gene:
                  ACSS2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000020.11:g.34882872T>A, NC_000020.10:g.33470675T>A, NG_011520.1:g.12931T>A, NM_018677.4:c.257T>A, NM_018677.3:c.257T>A, NM_001076552.3:c.257T>A, NM_001076552.2:c.257T>A, NM_001242393.2:c.-29T>A, NM_001242393.1:c.-29T>A, XM_005260455.3:c.257T>A, XM_005260455.2:c.257T>A, XM_005260455.1:c.257T>A, XM_011528909.3:c.107T>A, XM_011528909.2:c.107T>A, XM_011528909.1:c.107T>A, XM_005260456.3:c.257T>A, XM_005260456.2:c.257T>A, XM_005260456.1:c.257T>A, XM_011528905.2:c.257T>A, XM_011528905.1:c.257T>A, XM_011528906.2:c.257T>A, XM_011528906.1:c.257T>A, XM_011528907.2:c.257T>A, XM_011528907.1:c.257T>A, XM_011528908.2:c.257T>A, XM_011528908.1:c.257T>A, XM_011528911.2:c.107T>A, XM_011528911.1:c.107T>A, NR_028046.1:n.254T>A, XM_047440293.1:c.107T>A, XM_047440294.1:c.107T>A, NM_139274.1:c.-29T>A, NP_061147.1:p.Val86Glu, NP_001070020.2:p.Val86Glu, XP_005260512.1:p.Val86Glu, XP_011527211.1:p.Val36Glu, XP_005260513.1:p.Val86Glu, XP_011527207.1:p.Val86Glu, XP_011527208.1:p.Val86Glu, XP_011527209.1:p.Val86Glu, XP_011527210.1:p.Val86Glu, XP_011527213.1:p.Val36Glu, XP_047296249.1:p.Val36Glu, XP_047296250.1:p.Val36Glu

                  9.

                  rs1468083600 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:34926244 (GRCh38)
                    20:33514047 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:34926243:C:T
                    Gene:
                    ACSS2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    NC_000020.11:g.34926244C>T, NC_000020.10:g.33514047C>T, NG_011520.1:g.56303C>T, NM_018677.4:c.1866C>T, NM_018677.3:c.1866C>T, NM_001076552.3:c.1905C>T, NM_001076552.2:c.1905C>T, NM_001242393.2:c.1581C>T, NM_001242393.1:c.1581C>T, XM_005260455.3:c.1935C>T, XM_005260455.2:c.1935C>T, XM_005260455.1:c.1935C>T, XM_011528909.3:c.1824C>T, XM_011528909.2:c.1824C>T, XM_011528909.1:c.1824C>T, XM_005260456.3:c.1896C>T, XM_005260456.2:c.1896C>T, XM_005260456.1:c.1896C>T, XM_011528905.2:c.1974C>T, XM_011528905.1:c.1974C>T, XM_011528906.2:c.1944C>T, XM_011528906.1:c.1944C>T, XM_011528907.2:c.1935C>T, XM_011528907.1:c.1935C>T, XM_011528908.2:c.1905C>T, XM_011528908.1:c.1905C>T, XM_011528911.2:c.1785C>T, XM_011528911.1:c.1785C>T, NR_028046.1:n.1863C>T, XM_047440293.1:c.1746C>T, XM_047440294.1:c.1716C>T, NM_139274.1:c.1581C>T

                    10.

                    rs1468069169 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:34921600 (GRCh38)
                      20:33509403 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:34921599:T:C
                      Gene:
                      ACSS2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.34921600T>C, NC_000020.10:g.33509403T>C, NG_011520.1:g.51659T>C, NM_018677.4:c.1467T>C, NM_018677.3:c.1467T>C, NM_001076552.3:c.1506T>C, NM_001076552.2:c.1506T>C, NM_001242393.2:c.1182T>C, NM_001242393.1:c.1182T>C, XM_005260455.3:c.1506T>C, XM_005260455.2:c.1506T>C, XM_005260455.1:c.1506T>C, XM_011528909.3:c.1395T>C, XM_011528909.2:c.1395T>C, XM_011528909.1:c.1395T>C, XM_005260456.3:c.1467T>C, XM_005260456.2:c.1467T>C, XM_005260456.1:c.1467T>C, XM_011528905.2:c.1545T>C, XM_011528905.1:c.1545T>C, XM_011528906.2:c.1545T>C, XM_011528906.1:c.1545T>C, XM_011528907.2:c.1506T>C, XM_011528907.1:c.1506T>C, XM_011528908.2:c.1506T>C, XM_011528908.1:c.1506T>C, XM_011528911.2:c.1356T>C, XM_011528911.1:c.1356T>C, NR_028046.1:n.1464T>C, XM_047440293.1:c.1317T>C, XM_047440294.1:c.1317T>C, NM_139274.1:c.1182T>C

                      11.

                      rs1465824587 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        20:34923393 (GRCh38)
                        20:33511196 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:34923392:A:C,NC_000020.11:34923392:A:G
                        Gene:
                        ACSS2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000020.11:g.34923393A>C, NC_000020.11:g.34923393A>G, NC_000020.10:g.33511196A>C, NC_000020.10:g.33511196A>G, NG_011520.1:g.53452A>C, NG_011520.1:g.53452A>G, NM_018677.4:c.1619A>C, NM_018677.4:c.1619A>G, NM_018677.3:c.1619A>C, NM_018677.3:c.1619A>G, NM_001076552.3:c.1658A>C, NM_001076552.3:c.1658A>G, NM_001076552.2:c.1658A>C, NM_001076552.2:c.1658A>G, NM_001242393.2:c.1334A>C, NM_001242393.2:c.1334A>G, NM_001242393.1:c.1334A>C, NM_001242393.1:c.1334A>G, XM_005260455.3:c.1688A>C, XM_005260455.3:c.1688A>G, XM_005260455.2:c.1688A>C, XM_005260455.2:c.1688A>G, XM_005260455.1:c.1688A>C, XM_005260455.1:c.1688A>G, XM_011528909.3:c.1577A>C, XM_011528909.3:c.1577A>G, XM_011528909.2:c.1577A>C, XM_011528909.2:c.1577A>G, XM_011528909.1:c.1577A>C, XM_011528909.1:c.1577A>G, XM_005260456.3:c.1649A>C, XM_005260456.3:c.1649A>G, XM_005260456.2:c.1649A>C, XM_005260456.2:c.1649A>G, XM_005260456.1:c.1649A>C, XM_005260456.1:c.1649A>G, XM_011528905.2:c.1727A>C, XM_011528905.2:c.1727A>G, XM_011528905.1:c.1727A>C, XM_011528905.1:c.1727A>G, XM_011528906.2:c.1697A>C, XM_011528906.2:c.1697A>G, XM_011528906.1:c.1697A>C, XM_011528906.1:c.1697A>G, XM_011528907.2:c.1688A>C, XM_011528907.2:c.1688A>G, XM_011528907.1:c.1688A>C, XM_011528907.1:c.1688A>G, XM_011528908.2:c.1658A>C, XM_011528908.2:c.1658A>G, XM_011528908.1:c.1658A>C, XM_011528908.1:c.1658A>G, XM_011528911.2:c.1538A>C, XM_011528911.2:c.1538A>G, XM_011528911.1:c.1538A>C, XM_011528911.1:c.1538A>G, NR_028046.1:n.1616A>C, NR_028046.1:n.1616A>G, XM_047440293.1:c.1499A>C, XM_047440293.1:c.1499A>G, XM_047440294.1:c.1469A>C, XM_047440294.1:c.1469A>G, NM_139274.1:c.1334A>C, NM_139274.1:c.1334A>G, NP_061147.1:p.Tyr540Ser, NP_061147.1:p.Tyr540Cys, NP_001070020.2:p.Tyr553Ser, NP_001070020.2:p.Tyr553Cys, NP_001229322.1:p.Tyr445Ser, NP_001229322.1:p.Tyr445Cys, XP_005260512.1:p.Tyr563Ser, XP_005260512.1:p.Tyr563Cys, XP_011527211.1:p.Tyr526Ser, XP_011527211.1:p.Tyr526Cys, XP_005260513.1:p.Tyr550Ser, XP_005260513.1:p.Tyr550Cys, XP_011527207.1:p.Tyr576Ser, XP_011527207.1:p.Tyr576Cys, XP_011527208.1:p.Tyr566Ser, XP_011527208.1:p.Tyr566Cys, XP_011527209.1:p.Tyr563Ser, XP_011527209.1:p.Tyr563Cys, XP_011527210.1:p.Tyr553Ser, XP_011527210.1:p.Tyr553Cys, XP_011527213.1:p.Tyr513Ser, XP_011527213.1:p.Tyr513Cys, XP_047296249.1:p.Tyr500Ser, XP_047296249.1:p.Tyr500Cys, XP_047296250.1:p.Tyr490Ser, XP_047296250.1:p.Tyr490Cys

                        12.

                        rs1464122167 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:34913098 (GRCh38)
                          20:33500901 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:34913097:A:G
                          Gene:
                          ACSS2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.34913098A>G, NC_000020.10:g.33500901A>G, NG_011520.1:g.43157A>G, NM_018677.4:c.377A>G, NM_018677.3:c.377A>G, NM_001076552.3:c.377A>G, NM_001076552.2:c.377A>G, NM_001242393.2:c.92A>G, NM_001242393.1:c.92A>G, XM_005260455.3:c.377A>G, XM_005260455.2:c.377A>G, XM_005260455.1:c.377A>G, XM_011528909.3:c.266A>G, XM_011528909.2:c.266A>G, XM_011528909.1:c.266A>G, XM_005260456.3:c.377A>G, XM_005260456.2:c.377A>G, XM_005260456.1:c.377A>G, XM_011528905.2:c.416A>G, XM_011528905.1:c.416A>G, XM_011528906.2:c.416A>G, XM_011528906.1:c.416A>G, XM_011528907.2:c.416A>G, XM_011528907.1:c.416A>G, XM_011528908.2:c.416A>G, XM_011528908.1:c.416A>G, XM_011528911.2:c.227A>G, XM_011528911.1:c.227A>G, NR_028046.1:n.374A>G, XM_047440293.1:c.227A>G, XM_047440294.1:c.227A>G, NM_139274.1:c.92A>G, NP_061147.1:p.Glu126Gly, NP_001070020.2:p.Glu126Gly, NP_001229322.1:p.Glu31Gly, XP_005260512.1:p.Glu126Gly, XP_011527211.1:p.Glu89Gly, XP_005260513.1:p.Glu126Gly, XP_011527207.1:p.Glu139Gly, XP_011527208.1:p.Glu139Gly, XP_011527209.1:p.Glu139Gly, XP_011527210.1:p.Glu139Gly, XP_011527213.1:p.Glu76Gly, XP_047296249.1:p.Glu76Gly, XP_047296250.1:p.Glu76Gly

                          13.

                          rs1463559405 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            20:34926140 (GRCh38)
                            20:33513943 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:34926139:C:T
                            Gene:
                            ACSS2 (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=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000020.11:g.34926140C>T, NC_000020.10:g.33513943C>T, NG_011520.1:g.56199C>T, NM_018677.4:c.1762C>T, NM_018677.3:c.1762C>T, NM_001076552.3:c.1801C>T, NM_001076552.2:c.1801C>T, NM_001242393.2:c.1477C>T, NM_001242393.1:c.1477C>T, XM_005260455.3:c.1831C>T, XM_005260455.2:c.1831C>T, XM_005260455.1:c.1831C>T, XM_011528909.3:c.1720C>T, XM_011528909.2:c.1720C>T, XM_011528909.1:c.1720C>T, XM_005260456.3:c.1792C>T, XM_005260456.2:c.1792C>T, XM_005260456.1:c.1792C>T, XM_011528905.2:c.1870C>T, XM_011528905.1:c.1870C>T, XM_011528906.2:c.1840C>T, XM_011528906.1:c.1840C>T, XM_011528907.2:c.1831C>T, XM_011528907.1:c.1831C>T, XM_011528908.2:c.1801C>T, XM_011528908.1:c.1801C>T, XM_011528911.2:c.1681C>T, XM_011528911.1:c.1681C>T, NR_028046.1:n.1759C>T, XM_047440293.1:c.1642C>T, XM_047440294.1:c.1612C>T, NM_139274.1:c.1477C>T, NP_061147.1:p.Leu588Phe, NP_001070020.2:p.Leu601Phe, NP_001229322.1:p.Leu493Phe, XP_005260512.1:p.Leu611Phe, XP_011527211.1:p.Leu574Phe, XP_005260513.1:p.Leu598Phe, XP_011527207.1:p.Leu624Phe, XP_011527208.1:p.Leu614Phe, XP_011527209.1:p.Leu611Phe, XP_011527210.1:p.Leu601Phe, XP_011527213.1:p.Leu561Phe, XP_047296249.1:p.Leu548Phe, XP_047296250.1:p.Leu538Phe

                            14.

                            rs1460702309 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              20:34921348 (GRCh38)
                              20:33509151 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:34921347:G:C
                              Gene:
                              ACSS2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000016/4 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.34921348G>C, NC_000020.10:g.33509151G>C, NG_011520.1:g.51407G>C, NM_018677.4:c.1296G>C, NM_018677.3:c.1296G>C, NM_001076552.3:c.1335G>C, NM_001076552.2:c.1335G>C, NM_001242393.2:c.1011G>C, NM_001242393.1:c.1011G>C, XM_005260455.3:c.1335G>C, XM_005260455.2:c.1335G>C, XM_005260455.1:c.1335G>C, XM_011528909.3:c.1224G>C, XM_011528909.2:c.1224G>C, XM_011528909.1:c.1224G>C, XM_005260456.3:c.1296G>C, XM_005260456.2:c.1296G>C, XM_005260456.1:c.1296G>C, XM_011528905.2:c.1374G>C, XM_011528905.1:c.1374G>C, XM_011528906.2:c.1374G>C, XM_011528906.1:c.1374G>C, XM_011528907.2:c.1335G>C, XM_011528907.1:c.1335G>C, XM_011528908.2:c.1335G>C, XM_011528908.1:c.1335G>C, XM_011528911.2:c.1185G>C, XM_011528911.1:c.1185G>C, NR_028046.1:n.1293G>C, XM_047440293.1:c.1146G>C, XM_047440294.1:c.1146G>C, NM_139274.1:c.1011G>C, NP_061147.1:p.Leu432Phe, NP_001070020.2:p.Leu445Phe, NP_001229322.1:p.Leu337Phe, XP_005260512.1:p.Leu445Phe, XP_011527211.1:p.Leu408Phe, XP_005260513.1:p.Leu432Phe, XP_011527207.1:p.Leu458Phe, XP_011527208.1:p.Leu458Phe, XP_011527209.1:p.Leu445Phe, XP_011527210.1:p.Leu445Phe, XP_011527213.1:p.Leu395Phe, XP_047296249.1:p.Leu382Phe, XP_047296250.1:p.Leu382Phe

                              15.

                              rs1456746771 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:34876821 (GRCh38)
                                20:33464624 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:34876820:G:A
                                Gene:
                                ACSS2 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1454168130 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  20:34919505 (GRCh38)
                                  20:33507308 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:34919504:C:G
                                  Gene:
                                  ACSS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000020.11:g.34919505C>G, NC_000020.10:g.33507308C>G, NG_011520.1:g.49564C>G, NM_018677.4:c.905C>G, NM_018677.3:c.905C>G, NM_001076552.3:c.944C>G, NM_001076552.2:c.944C>G, NM_001242393.2:c.620C>G, NM_001242393.1:c.620C>G, XM_005260455.3:c.944C>G, XM_005260455.2:c.944C>G, XM_005260455.1:c.944C>G, XM_011528909.3:c.833C>G, XM_011528909.2:c.833C>G, XM_011528909.1:c.833C>G, XM_005260456.3:c.905C>G, XM_005260456.2:c.905C>G, XM_005260456.1:c.905C>G, XM_011528905.2:c.983C>G, XM_011528905.1:c.983C>G, XM_011528906.2:c.983C>G, XM_011528906.1:c.983C>G, XM_011528907.2:c.944C>G, XM_011528907.1:c.944C>G, XM_011528908.2:c.944C>G, XM_011528908.1:c.944C>G, XM_011528911.2:c.794C>G, XM_011528911.1:c.794C>G, NR_028046.1:n.902C>G, XM_047440293.1:c.755C>G, XM_047440294.1:c.755C>G, NM_139274.1:c.620C>G, NP_061147.1:p.Pro302Arg, NP_001070020.2:p.Pro315Arg, NP_001229322.1:p.Pro207Arg, XP_005260512.1:p.Pro315Arg, XP_011527211.1:p.Pro278Arg, XP_005260513.1:p.Pro302Arg, XP_011527207.1:p.Pro328Arg, XP_011527208.1:p.Pro328Arg, XP_011527209.1:p.Pro315Arg, XP_011527210.1:p.Pro315Arg, XP_011527213.1:p.Pro265Arg, XP_047296249.1:p.Pro252Arg, XP_047296250.1:p.Pro252Arg

                                  17.

                                  rs1453512795 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:34914421 (GRCh38)
                                    20:33502224 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:34914420:C:T
                                    Gene:
                                    ACSS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.34914421C>T, NC_000020.10:g.33502224C>T, NG_011520.1:g.44480C>T, NM_018677.4:c.818C>T, NM_018677.3:c.818C>T, NM_001076552.3:c.818C>T, NM_001076552.2:c.818C>T, NM_001242393.2:c.533C>T, NM_001242393.1:c.533C>T, XM_005260455.3:c.818C>T, XM_005260455.2:c.818C>T, XM_005260455.1:c.818C>T, XM_011528909.3:c.707C>T, XM_011528909.2:c.707C>T, XM_011528909.1:c.707C>T, XM_005260456.3:c.818C>T, XM_005260456.2:c.818C>T, XM_005260456.1:c.818C>T, XM_011528905.2:c.857C>T, XM_011528905.1:c.857C>T, XM_011528906.2:c.857C>T, XM_011528906.1:c.857C>T, XM_011528907.2:c.857C>T, XM_011528907.1:c.857C>T, XM_011528908.2:c.857C>T, XM_011528908.1:c.857C>T, XM_011528911.2:c.668C>T, XM_011528911.1:c.668C>T, NR_028046.1:n.815C>T, XM_047440293.1:c.668C>T, XM_047440294.1:c.668C>T, NM_139274.1:c.533C>T, NP_061147.1:p.Ser273Leu, NP_001070020.2:p.Ser273Leu, NP_001229322.1:p.Ser178Leu, XP_005260512.1:p.Ser273Leu, XP_011527211.1:p.Ser236Leu, XP_005260513.1:p.Ser273Leu, XP_011527207.1:p.Ser286Leu, XP_011527208.1:p.Ser286Leu, XP_011527209.1:p.Ser286Leu, XP_011527210.1:p.Ser286Leu, XP_011527213.1:p.Ser223Leu, XP_047296249.1:p.Ser223Leu, XP_047296250.1:p.Ser223Leu

                                    18.

                                    rs1453477111 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:34882841 (GRCh38)
                                      20:33470644 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:34882840:C:T
                                      Gene:
                                      ACSS2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000020.11:g.34882841C>T, NC_000020.10:g.33470644C>T, NG_011520.1:g.12900C>T, NM_018677.4:c.226C>T, NM_018677.3:c.226C>T, NM_001076552.3:c.226C>T, NM_001076552.2:c.226C>T, NM_001242393.2:c.-60C>T, NM_001242393.1:c.-60C>T, XM_005260455.3:c.226C>T, XM_005260455.2:c.226C>T, XM_005260455.1:c.226C>T, XM_011528909.3:c.76C>T, XM_011528909.2:c.76C>T, XM_011528909.1:c.76C>T, XM_005260456.3:c.226C>T, XM_005260456.2:c.226C>T, XM_005260456.1:c.226C>T, XM_011528905.2:c.226C>T, XM_011528905.1:c.226C>T, XM_011528906.2:c.226C>T, XM_011528906.1:c.226C>T, XM_011528907.2:c.226C>T, XM_011528907.1:c.226C>T, XM_011528908.2:c.226C>T, XM_011528908.1:c.226C>T, XM_011528911.2:c.76C>T, XM_011528911.1:c.76C>T, NR_028046.1:n.223C>T, XM_047440293.1:c.76C>T, XM_047440294.1:c.76C>T, NM_139274.1:c.-60C>T, NP_061147.1:p.Pro76Ser, NP_001070020.2:p.Pro76Ser, XP_005260512.1:p.Pro76Ser, XP_011527211.1:p.Pro26Ser, XP_005260513.1:p.Pro76Ser, XP_011527207.1:p.Pro76Ser, XP_011527208.1:p.Pro76Ser, XP_011527209.1:p.Pro76Ser, XP_011527210.1:p.Pro76Ser, XP_011527213.1:p.Pro26Ser, XP_047296249.1:p.Pro26Ser, XP_047296250.1:p.Pro26Ser

                                      19.

                                      rs1452648808 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GGGTGGT [Show Flanks]
                                        Chromosome:
                                        20:34921406 (GRCh38)
                                        20:33509210 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:34921406:GGGTGGT:GGGTGGTGGGTGGT
                                        Gene:
                                        ACSS2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGGTGGTGGGTGGT=0.000071/1 (ALFA)
                                        GGGTGGT=0.000004/1 (TOPMED)
                                        GGGTGGT=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000020.11:g.34921407_34921413dup, NC_000020.10:g.33509210_33509216dup, NG_011520.1:g.51466_51472dup, NM_018677.4:c.1355_1361dup, NM_018677.3:c.1355_1361dup, NM_001076552.3:c.1394_1400dup, NM_001076552.2:c.1394_1400dup, NM_001242393.2:c.1070_1076dup, NM_001242393.1:c.1070_1076dup, XM_005260455.3:c.1394_1400dup, XM_005260455.2:c.1394_1400dup, XM_005260455.1:c.1394_1400dup, XM_011528909.3:c.1283_1289dup, XM_011528909.2:c.1283_1289dup, XM_011528909.1:c.1283_1289dup, XM_005260456.3:c.1355_1361dup, XM_005260456.2:c.1355_1361dup, XM_005260456.1:c.1355_1361dup, XM_011528905.2:c.1433_1439dup, XM_011528905.1:c.1433_1439dup, XM_011528906.2:c.1433_1439dup, XM_011528906.1:c.1433_1439dup, XM_011528907.2:c.1394_1400dup, XM_011528907.1:c.1394_1400dup, XM_011528908.2:c.1394_1400dup, XM_011528908.1:c.1394_1400dup, XM_011528911.2:c.1244_1250dup, XM_011528911.1:c.1244_1250dup, NR_028046.1:n.1352_1358dup, XM_047440293.1:c.1205_1211dup, XM_047440294.1:c.1205_1211dup, NM_139274.1:c.1070_1076dup, NP_061147.1:p.Ala456fs, NP_001070020.2:p.Ala469fs, NP_001229322.1:p.Ala361fs, XP_005260512.1:p.Ala469fs, XP_011527211.1:p.Ala432fs, XP_005260513.1:p.Ala456fs, XP_011527207.1:p.Ala482fs, XP_011527208.1:p.Ala482fs, XP_011527209.1:p.Ala469fs, XP_011527210.1:p.Ala469fs, XP_011527213.1:p.Ala419fs, XP_047296249.1:p.Ala406fs, XP_047296250.1:p.Ala406fs

                                        20.

                                        rs1452478600 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:34921799 (GRCh38)
                                          20:33509602 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:34921798:T:C
                                          Gene:
                                          ACSS2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000031/1 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.34921799T>C, NC_000020.10:g.33509602T>C, NG_011520.1:g.51858T>C, NM_018677.4:c.1481T>C, NM_018677.3:c.1481T>C, NM_001076552.3:c.1520T>C, NM_001076552.2:c.1520T>C, NM_001242393.2:c.1196T>C, NM_001242393.1:c.1196T>C, XM_005260455.3:c.1520T>C, XM_005260455.2:c.1520T>C, XM_005260455.1:c.1520T>C, XM_011528909.3:c.1409T>C, XM_011528909.2:c.1409T>C, XM_011528909.1:c.1409T>C, XM_005260456.3:c.1481T>C, XM_005260456.2:c.1481T>C, XM_005260456.1:c.1481T>C, XM_011528905.2:c.1559T>C, XM_011528905.1:c.1559T>C, XM_011528906.2:c.1559T>C, XM_011528906.1:c.1559T>C, XM_011528907.2:c.1520T>C, XM_011528907.1:c.1520T>C, XM_011528908.2:c.1520T>C, XM_011528908.1:c.1520T>C, XM_011528911.2:c.1370T>C, XM_011528911.1:c.1370T>C, NR_028046.1:n.1478T>C, XM_047440293.1:c.1331T>C, XM_047440294.1:c.1331T>C, NM_139274.1:c.1196T>C, NP_061147.1:p.Phe494Ser, NP_001070020.2:p.Phe507Ser, NP_001229322.1:p.Phe399Ser, XP_005260512.1:p.Phe507Ser, XP_011527211.1:p.Phe470Ser, XP_005260513.1:p.Phe494Ser, XP_011527207.1:p.Phe520Ser, XP_011527208.1:p.Phe520Ser, XP_011527209.1:p.Phe507Ser, XP_011527210.1:p.Phe507Ser, XP_011527213.1:p.Phe457Ser, XP_047296249.1:p.Phe444Ser, XP_047296250.1:p.Phe444Ser

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