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Items: 1 to 20 of 304

1.

rs1486153215 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    6:152011678 (GRCh38)
    6:152332813 (GRCh37)
    Canonical SPDI:
    NC_000006.12:152011677:T:A,NC_000006.12:152011677:T:C,NC_000006.12:152011677:T:G
    Gene:
    ESR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000006.12:g.152011678T>A, NC_000006.12:g.152011678T>C, NC_000006.12:g.152011678T>G, NC_000006.11:g.152332813T>A, NC_000006.11:g.152332813T>C, NC_000006.11:g.152332813T>G, NG_008493.2:g.359988T>A, NG_008493.2:g.359988T>C, NG_008493.2:g.359988T>G, NM_000125.4:c.1119T>A, NM_000125.4:c.1119T>C, NM_000125.4:c.1119T>G, NM_000125.3:c.1119T>A, NM_000125.3:c.1119T>C, NM_000125.3:c.1119T>G, NM_001122740.2:c.1119T>A, NM_001122740.2:c.1119T>C, NM_001122740.2:c.1119T>G, NM_001122740.1:c.1119T>A, NM_001122740.1:c.1119T>C, NM_001122740.1:c.1119T>G, NM_001122742.2:c.1119T>A, NM_001122742.2:c.1119T>C, NM_001122742.2:c.1119T>G, NM_001122742.1:c.1119T>A, NM_001122742.1:c.1119T>C, NM_001122742.1:c.1119T>G, NM_001291230.2:c.1125T>A, NM_001291230.2:c.1125T>C, NM_001291230.2:c.1125T>G, NM_001291230.1:c.1125T>A, NM_001291230.1:c.1125T>C, NM_001291230.1:c.1125T>G, NM_001122741.2:c.1119T>A, NM_001122741.2:c.1119T>C, NM_001122741.2:c.1119T>G, NM_001122741.1:c.1119T>A, NM_001122741.1:c.1119T>C, NM_001122741.1:c.1119T>G, NM_001291241.2:c.1116T>A, NM_001291241.2:c.1116T>C, NM_001291241.2:c.1116T>G, NM_001291241.1:c.1116T>A, NM_001291241.1:c.1116T>C, NM_001291241.1:c.1116T>G, NM_001328100.2:c.600T>A, NM_001328100.2:c.600T>C, NM_001328100.2:c.600T>G, NM_001328100.1:c.600T>A, NM_001328100.1:c.600T>C, NM_001328100.1:c.600T>G, NM_001385569.1:c.1119T>A, NM_001385569.1:c.1119T>C, NM_001385569.1:c.1119T>G, NM_001385568.1:c.1119T>A, NM_001385568.1:c.1119T>C, NM_001385568.1:c.1119T>G, NM_001385571.1:c.1119T>A, NM_001385571.1:c.1119T>C, NM_001385571.1:c.1119T>G, NM_001385570.1:c.1119T>A, NM_001385570.1:c.1119T>C, NM_001385570.1:c.1119T>G, NM_001385572.1:c.1119T>A, NM_001385572.1:c.1119T>C, NM_001385572.1:c.1119T>G, XM_011535547.3:c.1119T>A, XM_011535547.3:c.1119T>C, XM_011535547.3:c.1119T>G, XM_011535547.2:c.1119T>A, XM_011535547.2:c.1119T>C, XM_011535547.2:c.1119T>G, XM_011535547.1:c.1119T>A, XM_011535547.1:c.1119T>C, XM_011535547.1:c.1119T>G, XM_011535549.3:c.390T>A, XM_011535549.3:c.390T>C, XM_011535549.3:c.390T>G, XM_011535549.2:c.390T>A, XM_011535549.2:c.390T>C, XM_011535549.2:c.390T>G, XM_011535549.1:c.390T>A, XM_011535549.1:c.390T>C, XM_011535549.1:c.390T>G, XM_011535543.3:c.1119T>A, XM_011535543.3:c.1119T>C, XM_011535543.3:c.1119T>G, XM_011535543.2:c.1119T>A, XM_011535543.2:c.1119T>C, XM_011535543.2:c.1119T>G, XM_011535543.1:c.1119T>A, XM_011535543.1:c.1119T>C, XM_011535543.1:c.1119T>G, XM_011535545.3:c.1119T>A, XM_011535545.3:c.1119T>C, XM_011535545.3:c.1119T>G, XM_011535545.2:c.1119T>A, XM_011535545.2:c.1119T>C, XM_011535545.2:c.1119T>G, XM_011535545.1:c.1119T>A, XM_011535545.1:c.1119T>C, XM_011535545.1:c.1119T>G, XM_017010379.2:c.1119T>A, XM_017010379.2:c.1119T>C, XM_017010379.2:c.1119T>G, XM_017010379.1:c.1119T>A, XM_017010379.1:c.1119T>C, XM_017010379.1:c.1119T>G, XM_017010383.2:c.330T>A, XM_017010383.2:c.330T>C, XM_017010383.2:c.330T>G, XM_017010383.1:c.330T>A, XM_017010383.1:c.330T>C, XM_017010383.1:c.330T>G, XM_017010377.2:c.1119T>A, XM_017010377.2:c.1119T>C, XM_017010377.2:c.1119T>G, XM_017010377.1:c.1119T>A, XM_017010377.1:c.1119T>C, XM_017010377.1:c.1119T>G, XM_017010378.2:c.1119T>A, XM_017010378.2:c.1119T>C, XM_017010378.2:c.1119T>G, XM_017010378.1:c.1119T>A, XM_017010378.1:c.1119T>C, XM_017010378.1:c.1119T>G, XM_017010380.2:c.1119T>A, XM_017010380.2:c.1119T>C, XM_017010380.2:c.1119T>G, XM_017010380.1:c.1119T>A, XM_017010380.1:c.1119T>C, XM_017010380.1:c.1119T>G, XM_017010381.2:c.1119T>A, XM_017010381.2:c.1119T>C, XM_017010381.2:c.1119T>G, XM_017010381.1:c.1119T>A, XM_017010381.1:c.1119T>C, XM_017010381.1:c.1119T>G, XM_047418290.1:c.1119T>A, XM_047418290.1:c.1119T>C, XM_047418290.1:c.1119T>G, XM_047418292.1:c.1119T>A, XM_047418292.1:c.1119T>C, XM_047418292.1:c.1119T>G, XM_047418293.1:c.1119T>A, XM_047418293.1:c.1119T>C, XM_047418293.1:c.1119T>G, XM_047418294.1:c.1119T>A, XM_047418294.1:c.1119T>C, XM_047418294.1:c.1119T>G, XM_047418291.1:c.1119T>A, XM_047418291.1:c.1119T>C, XM_047418291.1:c.1119T>G, XM_047418289.1:c.1119T>A, XM_047418289.1:c.1119T>C, XM_047418289.1:c.1119T>G, XM_047418296.1:c.1119T>A, XM_047418296.1:c.1119T>C, XM_047418296.1:c.1119T>G, XM_047418295.1:c.1119T>A, XM_047418295.1:c.1119T>C, XM_047418295.1:c.1119T>G, NP_000116.2:p.His373Gln, NP_000116.2:p.His373Gln, NP_001116212.1:p.His373Gln, NP_001116212.1:p.His373Gln, NP_001116214.1:p.His373Gln, NP_001116214.1:p.His373Gln, NP_001278159.1:p.His375Gln, NP_001278159.1:p.His375Gln, NP_001116213.1:p.His373Gln, NP_001116213.1:p.His373Gln, NP_001278170.1:p.His372Gln, NP_001278170.1:p.His372Gln, NP_001315029.1:p.His200Gln, NP_001315029.1:p.His200Gln, NP_001372498.1:p.His373Gln, NP_001372498.1:p.His373Gln, NP_001372497.1:p.His373Gln, NP_001372497.1:p.His373Gln, NP_001372500.1:p.His373Gln, NP_001372500.1:p.His373Gln, NP_001372499.1:p.His373Gln, NP_001372499.1:p.His373Gln, NP_001372501.1:p.His373Gln, NP_001372501.1:p.His373Gln, XP_011533849.1:p.His373Gln, XP_011533849.1:p.His373Gln, XP_011533851.1:p.His130Gln, XP_011533851.1:p.His130Gln, XP_011533845.1:p.His373Gln, XP_011533845.1:p.His373Gln, XP_011533847.1:p.His373Gln, XP_011533847.1:p.His373Gln, XP_016865868.1:p.His373Gln, XP_016865868.1:p.His373Gln, XP_016865872.1:p.His110Gln, XP_016865872.1:p.His110Gln, XP_016865866.1:p.His373Gln, XP_016865866.1:p.His373Gln, XP_016865867.1:p.His373Gln, XP_016865867.1:p.His373Gln, XP_016865869.1:p.His373Gln, XP_016865869.1:p.His373Gln, XP_016865870.1:p.His373Gln, XP_016865870.1:p.His373Gln, XP_047274246.1:p.His373Gln, XP_047274246.1:p.His373Gln, XP_047274248.1:p.His373Gln, XP_047274248.1:p.His373Gln, XP_047274249.1:p.His373Gln, XP_047274249.1:p.His373Gln, XP_047274250.1:p.His373Gln, XP_047274250.1:p.His373Gln, XP_047274247.1:p.His373Gln, XP_047274247.1:p.His373Gln, XP_047274245.1:p.His373Gln, XP_047274245.1:p.His373Gln, XP_047274252.1:p.His373Gln, XP_047274252.1:p.His373Gln, XP_047274251.1:p.His373Gln, XP_047274251.1:p.His373Gln

    2.

    rs1484294697 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      6:151936204 (GRCh38)
      6:152257339 (GRCh37)
      Canonical SPDI:
      NC_000006.12:151936203:C:A
      Gene:
      ESR1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1482742070 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        6:151944424 (GRCh38)
        6:152265559 (GRCh37)
        Canonical SPDI:
        NC_000006.12:151944423:A:G,NC_000006.12:151944423:A:T
        Gene:
        ESR1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000043/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000011/3 (TOPMED)
        G=0.000012/3 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.151944424A>G, NC_000006.12:g.151944424A>T, NC_000006.11:g.152265559A>G, NC_000006.11:g.152265559A>T, NG_008493.2:g.292734A>G, NG_008493.2:g.292734A>T, NM_000125.4:c.1012A>G, NM_000125.4:c.1012A>T, NM_000125.3:c.1012A>G, NM_000125.3:c.1012A>T, NM_001122740.2:c.1012A>G, NM_001122740.2:c.1012A>T, NM_001122740.1:c.1012A>G, NM_001122740.1:c.1012A>T, NM_001122742.2:c.1012A>G, NM_001122742.2:c.1012A>T, NM_001122742.1:c.1012A>G, NM_001122742.1:c.1012A>T, NM_001291230.2:c.1018A>G, NM_001291230.2:c.1018A>T, NM_001291230.1:c.1018A>G, NM_001291230.1:c.1018A>T, NM_001122741.2:c.1012A>G, NM_001122741.2:c.1012A>T, NM_001122741.1:c.1012A>G, NM_001122741.1:c.1012A>T, NM_001291241.2:c.1009A>G, NM_001291241.2:c.1009A>T, NM_001291241.1:c.1009A>G, NM_001291241.1:c.1009A>T, NM_001328100.2:c.493A>G, NM_001328100.2:c.493A>T, NM_001328100.1:c.493A>G, NM_001328100.1:c.493A>T, NM_001385569.1:c.1012A>G, NM_001385569.1:c.1012A>T, NM_001385568.1:c.1012A>G, NM_001385568.1:c.1012A>T, NM_001385571.1:c.1012A>G, NM_001385571.1:c.1012A>T, NM_001385570.1:c.1012A>G, NM_001385570.1:c.1012A>T, NM_001385572.1:c.1012A>G, NM_001385572.1:c.1012A>T, XM_011535547.3:c.1012A>G, XM_011535547.3:c.1012A>T, XM_011535547.2:c.1012A>G, XM_011535547.2:c.1012A>T, XM_011535547.1:c.1012A>G, XM_011535547.1:c.1012A>T, XM_011535549.3:c.283A>G, XM_011535549.3:c.283A>T, XM_011535549.2:c.283A>G, XM_011535549.2:c.283A>T, XM_011535549.1:c.283A>G, XM_011535549.1:c.283A>T, XM_011535543.3:c.1012A>G, XM_011535543.3:c.1012A>T, XM_011535543.2:c.1012A>G, XM_011535543.2:c.1012A>T, XM_011535543.1:c.1012A>G, XM_011535543.1:c.1012A>T, XM_011535545.3:c.1012A>G, XM_011535545.3:c.1012A>T, XM_011535545.2:c.1012A>G, XM_011535545.2:c.1012A>T, XM_011535545.1:c.1012A>G, XM_011535545.1:c.1012A>T, XM_017010379.2:c.1012A>G, XM_017010379.2:c.1012A>T, XM_017010379.1:c.1012A>G, XM_017010379.1:c.1012A>T, XM_017010383.2:c.223A>G, XM_017010383.2:c.223A>T, XM_017010383.1:c.223A>G, XM_017010383.1:c.223A>T, XM_017010377.2:c.1012A>G, XM_017010377.2:c.1012A>T, XM_017010377.1:c.1012A>G, XM_017010377.1:c.1012A>T, XM_017010378.2:c.1012A>G, XM_017010378.2:c.1012A>T, XM_017010378.1:c.1012A>G, XM_017010378.1:c.1012A>T, XM_017010380.2:c.1012A>G, XM_017010380.2:c.1012A>T, XM_017010380.1:c.1012A>G, XM_017010380.1:c.1012A>T, XM_017010381.2:c.1012A>G, XM_017010381.2:c.1012A>T, XM_017010381.1:c.1012A>G, XM_017010381.1:c.1012A>T, XM_047418290.1:c.1012A>G, XM_047418290.1:c.1012A>T, XM_047418292.1:c.1012A>G, XM_047418292.1:c.1012A>T, XM_047418293.1:c.1012A>G, XM_047418293.1:c.1012A>T, XM_047418294.1:c.1012A>G, XM_047418294.1:c.1012A>T, XM_047418291.1:c.1012A>G, XM_047418291.1:c.1012A>T, XM_047418289.1:c.1012A>G, XM_047418289.1:c.1012A>T, XM_047418296.1:c.1012A>G, XM_047418296.1:c.1012A>T, XM_047418295.1:c.1012A>G, XM_047418295.1:c.1012A>T, XM_047418299.1:c.1012A>G, XM_047418299.1:c.1012A>T, XM_047418297.1:c.1012A>G, XM_047418297.1:c.1012A>T, XM_047418298.1:c.1012A>G, XM_047418298.1:c.1012A>T, NP_000116.2:p.Ser338Gly, NP_000116.2:p.Ser338Cys, NP_001116212.1:p.Ser338Gly, NP_001116212.1:p.Ser338Cys, NP_001116214.1:p.Ser338Gly, NP_001116214.1:p.Ser338Cys, NP_001278159.1:p.Ser340Gly, NP_001278159.1:p.Ser340Cys, NP_001116213.1:p.Ser338Gly, NP_001116213.1:p.Ser338Cys, NP_001278170.1:p.Ser337Gly, NP_001278170.1:p.Ser337Cys, NP_001315029.1:p.Ser165Gly, NP_001315029.1:p.Ser165Cys, NP_001372498.1:p.Ser338Gly, NP_001372498.1:p.Ser338Cys, NP_001372497.1:p.Ser338Gly, NP_001372497.1:p.Ser338Cys, NP_001372500.1:p.Ser338Gly, NP_001372500.1:p.Ser338Cys, NP_001372499.1:p.Ser338Gly, NP_001372499.1:p.Ser338Cys, NP_001372501.1:p.Ser338Gly, NP_001372501.1:p.Ser338Cys, XP_011533849.1:p.Ser338Gly, XP_011533849.1:p.Ser338Cys, XP_011533851.1:p.Ser95Gly, XP_011533851.1:p.Ser95Cys, XP_011533845.1:p.Ser338Gly, XP_011533845.1:p.Ser338Cys, XP_011533847.1:p.Ser338Gly, XP_011533847.1:p.Ser338Cys, XP_016865868.1:p.Ser338Gly, XP_016865868.1:p.Ser338Cys, XP_016865872.1:p.Ser75Gly, XP_016865872.1:p.Ser75Cys, XP_016865866.1:p.Ser338Gly, XP_016865866.1:p.Ser338Cys, XP_016865867.1:p.Ser338Gly, XP_016865867.1:p.Ser338Cys, XP_016865869.1:p.Ser338Gly, XP_016865869.1:p.Ser338Cys, XP_016865870.1:p.Ser338Gly, XP_016865870.1:p.Ser338Cys, XP_047274246.1:p.Ser338Gly, XP_047274246.1:p.Ser338Cys, XP_047274248.1:p.Ser338Gly, XP_047274248.1:p.Ser338Cys, XP_047274249.1:p.Ser338Gly, XP_047274249.1:p.Ser338Cys, XP_047274250.1:p.Ser338Gly, XP_047274250.1:p.Ser338Cys, XP_047274247.1:p.Ser338Gly, XP_047274247.1:p.Ser338Cys, XP_047274245.1:p.Ser338Gly, XP_047274245.1:p.Ser338Cys, XP_047274252.1:p.Ser338Gly, XP_047274252.1:p.Ser338Cys, XP_047274251.1:p.Ser338Gly, XP_047274251.1:p.Ser338Cys, XP_047274255.1:p.Ser338Gly, XP_047274255.1:p.Ser338Cys, XP_047274253.1:p.Ser338Gly, XP_047274253.1:p.Ser338Cys, XP_047274254.1:p.Ser338Gly, XP_047274254.1:p.Ser338Cys

        4.

        rs1481040406 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          6:152061039 (GRCh38)
          6:152382174 (GRCh37)
          Canonical SPDI:
          NC_000006.12:152061038:G:A,NC_000006.12:152061038:G:C,NC_000006.12:152061038:G:T
          Gene:
          ESR1 (Varview)
          Functional Consequence:
          coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000008/2 (TOPMED)
          A=0.000071/2 (TOMMO)
          HGVS:
          NC_000006.12:g.152061039G>A, NC_000006.12:g.152061039G>C, NC_000006.12:g.152061039G>T, NC_000006.11:g.152382174G>A, NC_000006.11:g.152382174G>C, NC_000006.11:g.152382174G>T, NG_008493.2:g.409349G>A, NG_008493.2:g.409349G>C, NG_008493.2:g.409349G>T, NM_000125.4:c.1284G>A, NM_000125.4:c.1284G>C, NM_000125.4:c.1284G>T, NM_000125.3:c.1284G>A, NM_000125.3:c.1284G>C, NM_000125.3:c.1284G>T, NM_001122740.2:c.1284G>A, NM_001122740.2:c.1284G>C, NM_001122740.2:c.1284G>T, NM_001122740.1:c.1284G>A, NM_001122740.1:c.1284G>C, NM_001122740.1:c.1284G>T, NM_001122742.2:c.1284G>A, NM_001122742.2:c.1284G>C, NM_001122742.2:c.1284G>T, NM_001122742.1:c.1284G>A, NM_001122742.1:c.1284G>C, NM_001122742.1:c.1284G>T, NM_001291230.2:c.1290G>A, NM_001291230.2:c.1290G>C, NM_001291230.2:c.1290G>T, NM_001291230.1:c.1290G>A, NM_001291230.1:c.1290G>C, NM_001291230.1:c.1290G>T, NM_001122741.2:c.1284G>A, NM_001122741.2:c.1284G>C, NM_001122741.2:c.1284G>T, NM_001122741.1:c.1284G>A, NM_001122741.1:c.1284G>C, NM_001122741.1:c.1284G>T, NM_001291241.2:c.1281G>A, NM_001291241.2:c.1281G>C, NM_001291241.2:c.1281G>T, NM_001291241.1:c.1281G>A, NM_001291241.1:c.1281G>C, NM_001291241.1:c.1281G>T, NM_001328100.2:c.765G>A, NM_001328100.2:c.765G>C, NM_001328100.2:c.765G>T, NM_001328100.1:c.765G>A, NM_001328100.1:c.765G>C, NM_001328100.1:c.765G>T, NM_001385569.1:c.1284G>A, NM_001385569.1:c.1284G>C, NM_001385569.1:c.1284G>T, NM_001385568.1:c.1284G>A, NM_001385568.1:c.1284G>C, NM_001385568.1:c.1284G>T, NM_001385571.1:c.1284G>A, NM_001385571.1:c.1284G>C, NM_001385571.1:c.1284G>T, NM_001385570.1:c.1284G>A, NM_001385570.1:c.1284G>C, NM_001385570.1:c.1284G>T, NM_001385572.1:c.1284G>A, NM_001385572.1:c.1284G>C, NM_001385572.1:c.1284G>T, XM_011535547.3:c.1284G>A, XM_011535547.3:c.1284G>C, XM_011535547.3:c.1284G>T, XM_011535547.2:c.1284G>A, XM_011535547.2:c.1284G>C, XM_011535547.2:c.1284G>T, XM_011535547.1:c.1284G>A, XM_011535547.1:c.1284G>C, XM_011535547.1:c.1284G>T, XM_011535549.3:c.555G>A, XM_011535549.3:c.555G>C, XM_011535549.3:c.555G>T, XM_011535549.2:c.555G>A, XM_011535549.2:c.555G>C, XM_011535549.2:c.555G>T, XM_011535549.1:c.555G>A, XM_011535549.1:c.555G>C, XM_011535549.1:c.555G>T, XM_011535543.3:c.1284G>A, XM_011535543.3:c.1284G>C, XM_011535543.3:c.1284G>T, XM_011535543.2:c.1284G>A, XM_011535543.2:c.1284G>C, XM_011535543.2:c.1284G>T, XM_011535543.1:c.1284G>A, XM_011535543.1:c.1284G>C, XM_011535543.1:c.1284G>T, XM_011535545.3:c.1284G>A, XM_011535545.3:c.1284G>C, XM_011535545.3:c.1284G>T, XM_011535545.2:c.1284G>A, XM_011535545.2:c.1284G>C, XM_011535545.2:c.1284G>T, XM_011535545.1:c.1284G>A, XM_011535545.1:c.1284G>C, XM_011535545.1:c.1284G>T, XM_017010379.2:c.1284G>A, XM_017010379.2:c.1284G>C, XM_017010379.2:c.1284G>T, XM_017010379.1:c.1284G>A, XM_017010379.1:c.1284G>C, XM_017010379.1:c.1284G>T, XM_017010383.2:c.495G>A, XM_017010383.2:c.495G>C, XM_017010383.2:c.495G>T, XM_017010383.1:c.495G>A, XM_017010383.1:c.495G>C, XM_017010383.1:c.495G>T, XM_017010377.2:c.1284G>A, XM_017010377.2:c.1284G>C, XM_017010377.2:c.1284G>T, XM_017010377.1:c.1284G>A, XM_017010377.1:c.1284G>C, XM_017010377.1:c.1284G>T, XM_017010378.2:c.1284G>A, XM_017010378.2:c.1284G>C, XM_017010378.2:c.1284G>T, XM_017010378.1:c.1284G>A, XM_017010378.1:c.1284G>C, XM_017010378.1:c.1284G>T, XM_017010380.2:c.1284G>A, XM_017010380.2:c.1284G>C, XM_017010380.2:c.1284G>T, XM_017010380.1:c.1284G>A, XM_017010380.1:c.1284G>C, XM_017010380.1:c.1284G>T, XM_017010381.2:c.1284G>A, XM_017010381.2:c.1284G>C, XM_017010381.2:c.1284G>T, XM_017010381.1:c.1284G>A, XM_017010381.1:c.1284G>C, XM_017010381.1:c.1284G>T, XM_047418290.1:c.1284G>A, XM_047418290.1:c.1284G>C, XM_047418290.1:c.1284G>T, XM_047418292.1:c.1284G>A, XM_047418292.1:c.1284G>C, XM_047418292.1:c.1284G>T, XM_047418293.1:c.1284G>A, XM_047418293.1:c.1284G>C, XM_047418293.1:c.1284G>T, XM_047418294.1:c.1284G>A, XM_047418294.1:c.1284G>C, XM_047418294.1:c.1284G>T, XM_047418291.1:c.1284G>A, XM_047418291.1:c.1284G>C, XM_047418291.1:c.1284G>T, XM_047418289.1:c.1284G>A, XM_047418289.1:c.1284G>C, XM_047418289.1:c.1284G>T, XM_047418296.1:c.1284G>A, XM_047418296.1:c.1284G>C, XM_047418296.1:c.1284G>T, XM_047418295.1:c.1284G>A, XM_047418295.1:c.1284G>C, XM_047418295.1:c.1284G>T, XM_047418299.1:c.*29G>A, XM_047418299.1:c.*29G>C, XM_047418299.1:c.*29G>T, XM_047418297.1:c.*29G>A, XM_047418297.1:c.*29G>C, XM_047418297.1:c.*29G>T, XM_047418298.1:c.*29G>A, XM_047418298.1:c.*29G>C, XM_047418298.1:c.*29G>T

          5.

          rs1479863673 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            6:152098860 (GRCh38)
            6:152419995 (GRCh37)
            Canonical SPDI:
            NC_000006.12:152098859:A:G,NC_000006.12:152098859:A:T
            Gene:
            ESR1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000006.12:g.152098860A>G, NC_000006.12:g.152098860A>T, NC_000006.11:g.152419995A>G, NC_000006.11:g.152419995A>T, NG_008493.2:g.447170A>G, NG_008493.2:g.447170A>T, NM_000125.4:c.1682A>G, NM_000125.4:c.1682A>T, NM_000125.3:c.1682A>G, NM_000125.3:c.1682A>T, NM_001122740.2:c.1682A>G, NM_001122740.2:c.1682A>T, NM_001122740.1:c.1682A>G, NM_001122740.1:c.1682A>T, NM_001122742.2:c.1682A>G, NM_001122742.2:c.1682A>T, NM_001122742.1:c.1682A>G, NM_001122742.1:c.1682A>T, NM_001291230.2:c.1688A>G, NM_001291230.2:c.1688A>T, NM_001291230.1:c.1688A>G, NM_001291230.1:c.1688A>T, NM_001122741.2:c.1682A>G, NM_001122741.2:c.1682A>T, NM_001122741.1:c.1682A>G, NM_001122741.1:c.1682A>T, NM_001291241.2:c.1679A>G, NM_001291241.2:c.1679A>T, NM_001291241.1:c.1679A>G, NM_001291241.1:c.1679A>T, NM_001385569.1:c.1682A>G, NM_001385569.1:c.1682A>T, NM_001385568.1:c.1682A>G, NM_001385568.1:c.1682A>T, NM_001385571.1:c.*97A>G, NM_001385571.1:c.*97A>T, NM_001385570.1:c.*97A>G, NM_001385570.1:c.*97A>T, NM_001385572.1:c.*97A>G, NM_001385572.1:c.*97A>T, XM_011535549.3:c.953A>G, XM_011535549.3:c.953A>T, XM_011535549.2:c.953A>G, XM_011535549.2:c.953A>T, XM_011535549.1:c.953A>G, XM_011535549.1:c.953A>T, XM_011535543.3:c.1682A>G, XM_011535543.3:c.1682A>T, XM_011535543.2:c.1682A>G, XM_011535543.2:c.1682A>T, XM_011535543.1:c.1682A>G, XM_011535543.1:c.1682A>T, XM_011535545.3:c.1682A>G, XM_011535545.3:c.1682A>T, XM_011535545.2:c.1682A>G, XM_011535545.2:c.1682A>T, XM_011535545.1:c.1682A>G, XM_011535545.1:c.1682A>T, XM_017010379.2:c.1682A>G, XM_017010379.2:c.1682A>T, XM_017010379.1:c.1682A>G, XM_017010379.1:c.1682A>T, XM_017010383.2:c.893A>G, XM_017010383.2:c.893A>T, XM_017010383.1:c.893A>G, XM_017010383.1:c.893A>T, XM_017010377.2:c.1682A>G, XM_017010377.2:c.1682A>T, XM_017010377.1:c.1682A>G, XM_017010377.1:c.1682A>T, XM_017010378.2:c.1682A>G, XM_017010378.2:c.1682A>T, XM_017010378.1:c.1682A>G, XM_017010378.1:c.1682A>T, XM_017010380.2:c.1682A>G, XM_017010380.2:c.1682A>T, XM_017010380.1:c.1682A>G, XM_017010380.1:c.1682A>T, XM_017010381.2:c.1682A>G, XM_017010381.2:c.1682A>T, XM_017010381.1:c.1682A>G, XM_017010381.1:c.1682A>T, XM_047418290.1:c.1682A>G, XM_047418290.1:c.1682A>T, XM_047418289.1:c.1682A>G, XM_047418289.1:c.1682A>T, XM_047418296.1:c.*97A>G, XM_047418296.1:c.*97A>T, XM_047418295.1:c.*97A>G, XM_047418295.1:c.*97A>T, NP_000116.2:p.Glu561Gly, NP_000116.2:p.Glu561Val, NP_001116212.1:p.Glu561Gly, NP_001116212.1:p.Glu561Val, NP_001116214.1:p.Glu561Gly, NP_001116214.1:p.Glu561Val, NP_001278159.1:p.Glu563Gly, NP_001278159.1:p.Glu563Val, NP_001116213.1:p.Glu561Gly, NP_001116213.1:p.Glu561Val, NP_001278170.1:p.Glu560Gly, NP_001278170.1:p.Glu560Val, NP_001372498.1:p.Glu561Gly, NP_001372498.1:p.Glu561Val, NP_001372497.1:p.Glu561Gly, NP_001372497.1:p.Glu561Val, XP_011533851.1:p.Glu318Gly, XP_011533851.1:p.Glu318Val, XP_011533845.1:p.Glu561Gly, XP_011533845.1:p.Glu561Val, XP_011533847.1:p.Glu561Gly, XP_011533847.1:p.Glu561Val, XP_016865868.1:p.Glu561Gly, XP_016865868.1:p.Glu561Val, XP_016865872.1:p.Glu298Gly, XP_016865872.1:p.Glu298Val, XP_016865866.1:p.Glu561Gly, XP_016865866.1:p.Glu561Val, XP_016865867.1:p.Glu561Gly, XP_016865867.1:p.Glu561Val, XP_016865869.1:p.Glu561Gly, XP_016865869.1:p.Glu561Val, XP_016865870.1:p.Glu561Gly, XP_016865870.1:p.Glu561Val, XP_047274246.1:p.Glu561Gly, XP_047274246.1:p.Glu561Val, XP_047274245.1:p.Glu561Gly, XP_047274245.1:p.Glu561Val

            6.

            rs1474658933 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              6:151944222 (GRCh38)
              6:152265357 (GRCh37)
              Canonical SPDI:
              NC_000006.12:151944221:G:A,NC_000006.12:151944221:G:C
              Gene:
              ESR1 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.151944222G>A, NC_000006.12:g.151944222G>C, NC_000006.11:g.152265357G>A, NC_000006.11:g.152265357G>C, NG_008493.2:g.292532G>A, NG_008493.2:g.292532G>C, NM_000125.4:c.810G>A, NM_000125.4:c.810G>C, NM_000125.3:c.810G>A, NM_000125.3:c.810G>C, NM_001122740.2:c.810G>A, NM_001122740.2:c.810G>C, NM_001122740.1:c.810G>A, NM_001122740.1:c.810G>C, NM_001122742.2:c.810G>A, NM_001122742.2:c.810G>C, NM_001122742.1:c.810G>A, NM_001122742.1:c.810G>C, NM_001291230.2:c.816G>A, NM_001291230.2:c.816G>C, NM_001291230.1:c.816G>A, NM_001291230.1:c.816G>C, NM_001122741.2:c.810G>A, NM_001122741.2:c.810G>C, NM_001122741.1:c.810G>A, NM_001122741.1:c.810G>C, NM_001291241.2:c.807G>A, NM_001291241.2:c.807G>C, NM_001291241.1:c.807G>A, NM_001291241.1:c.807G>C, NM_001328100.2:c.291G>A, NM_001328100.2:c.291G>C, NM_001328100.1:c.291G>A, NM_001328100.1:c.291G>C, NM_001385569.1:c.810G>A, NM_001385569.1:c.810G>C, NM_001385568.1:c.810G>A, NM_001385568.1:c.810G>C, NM_001385571.1:c.810G>A, NM_001385571.1:c.810G>C, NM_001385570.1:c.810G>A, NM_001385570.1:c.810G>C, NM_001385572.1:c.810G>A, NM_001385572.1:c.810G>C, XM_011535547.3:c.810G>A, XM_011535547.3:c.810G>C, XM_011535547.2:c.810G>A, XM_011535547.2:c.810G>C, XM_011535547.1:c.810G>A, XM_011535547.1:c.810G>C, XM_011535549.3:c.81G>A, XM_011535549.3:c.81G>C, XM_011535549.2:c.81G>A, XM_011535549.2:c.81G>C, XM_011535549.1:c.81G>A, XM_011535549.1:c.81G>C, XM_011535543.3:c.810G>A, XM_011535543.3:c.810G>C, XM_011535543.2:c.810G>A, XM_011535543.2:c.810G>C, XM_011535543.1:c.810G>A, XM_011535543.1:c.810G>C, XM_011535545.3:c.810G>A, XM_011535545.3:c.810G>C, XM_011535545.2:c.810G>A, XM_011535545.2:c.810G>C, XM_011535545.1:c.810G>A, XM_011535545.1:c.810G>C, XM_017010379.2:c.810G>A, XM_017010379.2:c.810G>C, XM_017010379.1:c.810G>A, XM_017010379.1:c.810G>C, XM_017010383.2:c.21G>A, XM_017010383.2:c.21G>C, XM_017010383.1:c.21G>A, XM_017010383.1:c.21G>C, XM_017010377.2:c.810G>A, XM_017010377.2:c.810G>C, XM_017010377.1:c.810G>A, XM_017010377.1:c.810G>C, XM_017010378.2:c.810G>A, XM_017010378.2:c.810G>C, XM_017010378.1:c.810G>A, XM_017010378.1:c.810G>C, XM_017010380.2:c.810G>A, XM_017010380.2:c.810G>C, XM_017010380.1:c.810G>A, XM_017010380.1:c.810G>C, XM_017010381.2:c.810G>A, XM_017010381.2:c.810G>C, XM_017010381.1:c.810G>A, XM_017010381.1:c.810G>C, XM_047418290.1:c.810G>A, XM_047418290.1:c.810G>C, XM_047418292.1:c.810G>A, XM_047418292.1:c.810G>C, XM_047418293.1:c.810G>A, XM_047418293.1:c.810G>C, XM_047418294.1:c.810G>A, XM_047418294.1:c.810G>C, XM_047418291.1:c.810G>A, XM_047418291.1:c.810G>C, XM_047418289.1:c.810G>A, XM_047418289.1:c.810G>C, XM_047418296.1:c.810G>A, XM_047418296.1:c.810G>C, XM_047418295.1:c.810G>A, XM_047418295.1:c.810G>C, XM_047418299.1:c.810G>A, XM_047418299.1:c.810G>C, XM_047418297.1:c.810G>A, XM_047418297.1:c.810G>C, XM_047418298.1:c.810G>A, XM_047418298.1:c.810G>C, NP_000116.2:p.Gln270His, NP_001116212.1:p.Gln270His, NP_001116214.1:p.Gln270His, NP_001278159.1:p.Gln272His, NP_001116213.1:p.Gln270His, NP_001278170.1:p.Gln269His, NP_001315029.1:p.Gln97His, NP_001372498.1:p.Gln270His, NP_001372497.1:p.Gln270His, NP_001372500.1:p.Gln270His, NP_001372499.1:p.Gln270His, NP_001372501.1:p.Gln270His, XP_011533849.1:p.Gln270His, XP_011533851.1:p.Gln27His, XP_011533845.1:p.Gln270His, XP_011533847.1:p.Gln270His, XP_016865868.1:p.Gln270His, XP_016865872.1:p.Gln7His, XP_016865866.1:p.Gln270His, XP_016865867.1:p.Gln270His, XP_016865869.1:p.Gln270His, XP_016865870.1:p.Gln270His, XP_047274246.1:p.Gln270His, XP_047274248.1:p.Gln270His, XP_047274249.1:p.Gln270His, XP_047274250.1:p.Gln270His, XP_047274247.1:p.Gln270His, XP_047274245.1:p.Gln270His, XP_047274252.1:p.Gln270His, XP_047274251.1:p.Gln270His, XP_047274255.1:p.Gln270His, XP_047274253.1:p.Gln270His, XP_047274254.1:p.Gln270His

              7.

              rs1472996733 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                6:151944357 (GRCh38)
                6:152265492 (GRCh37)
                Canonical SPDI:
                NC_000006.12:151944356:G:A,NC_000006.12:151944356:G:C
                Gene:
                ESR1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000006.12:g.151944357G>A, NC_000006.12:g.151944357G>C, NC_000006.11:g.152265492G>A, NC_000006.11:g.152265492G>C, NG_008493.2:g.292667G>A, NG_008493.2:g.292667G>C, NM_000125.4:c.945G>A, NM_000125.4:c.945G>C, NM_000125.3:c.945G>A, NM_000125.3:c.945G>C, NM_001122740.2:c.945G>A, NM_001122740.2:c.945G>C, NM_001122740.1:c.945G>A, NM_001122740.1:c.945G>C, NM_001122742.2:c.945G>A, NM_001122742.2:c.945G>C, NM_001122742.1:c.945G>A, NM_001122742.1:c.945G>C, NM_001291230.2:c.951G>A, NM_001291230.2:c.951G>C, NM_001291230.1:c.951G>A, NM_001291230.1:c.951G>C, NM_001122741.2:c.945G>A, NM_001122741.2:c.945G>C, NM_001122741.1:c.945G>A, NM_001122741.1:c.945G>C, NM_001291241.2:c.942G>A, NM_001291241.2:c.942G>C, NM_001291241.1:c.942G>A, NM_001291241.1:c.942G>C, NM_001328100.2:c.426G>A, NM_001328100.2:c.426G>C, NM_001328100.1:c.426G>A, NM_001328100.1:c.426G>C, NM_001385569.1:c.945G>A, NM_001385569.1:c.945G>C, NM_001385568.1:c.945G>A, NM_001385568.1:c.945G>C, NM_001385571.1:c.945G>A, NM_001385571.1:c.945G>C, NM_001385570.1:c.945G>A, NM_001385570.1:c.945G>C, NM_001385572.1:c.945G>A, NM_001385572.1:c.945G>C, XM_011535547.3:c.945G>A, XM_011535547.3:c.945G>C, XM_011535547.2:c.945G>A, XM_011535547.2:c.945G>C, XM_011535547.1:c.945G>A, XM_011535547.1:c.945G>C, XM_011535549.3:c.216G>A, XM_011535549.3:c.216G>C, XM_011535549.2:c.216G>A, XM_011535549.2:c.216G>C, XM_011535549.1:c.216G>A, XM_011535549.1:c.216G>C, XM_011535543.3:c.945G>A, XM_011535543.3:c.945G>C, XM_011535543.2:c.945G>A, XM_011535543.2:c.945G>C, XM_011535543.1:c.945G>A, XM_011535543.1:c.945G>C, XM_011535545.3:c.945G>A, XM_011535545.3:c.945G>C, XM_011535545.2:c.945G>A, XM_011535545.2:c.945G>C, XM_011535545.1:c.945G>A, XM_011535545.1:c.945G>C, XM_017010379.2:c.945G>A, XM_017010379.2:c.945G>C, XM_017010379.1:c.945G>A, XM_017010379.1:c.945G>C, XM_017010383.2:c.156G>A, XM_017010383.2:c.156G>C, XM_017010383.1:c.156G>A, XM_017010383.1:c.156G>C, XM_017010377.2:c.945G>A, XM_017010377.2:c.945G>C, XM_017010377.1:c.945G>A, XM_017010377.1:c.945G>C, XM_017010378.2:c.945G>A, XM_017010378.2:c.945G>C, XM_017010378.1:c.945G>A, XM_017010378.1:c.945G>C, XM_017010380.2:c.945G>A, XM_017010380.2:c.945G>C, XM_017010380.1:c.945G>A, XM_017010380.1:c.945G>C, XM_017010381.2:c.945G>A, XM_017010381.2:c.945G>C, XM_017010381.1:c.945G>A, XM_017010381.1:c.945G>C, XM_047418290.1:c.945G>A, XM_047418290.1:c.945G>C, XM_047418292.1:c.945G>A, XM_047418292.1:c.945G>C, XM_047418293.1:c.945G>A, XM_047418293.1:c.945G>C, XM_047418294.1:c.945G>A, XM_047418294.1:c.945G>C, XM_047418291.1:c.945G>A, XM_047418291.1:c.945G>C, XM_047418289.1:c.945G>A, XM_047418289.1:c.945G>C, XM_047418296.1:c.945G>A, XM_047418296.1:c.945G>C, XM_047418295.1:c.945G>A, XM_047418295.1:c.945G>C, XM_047418299.1:c.945G>A, XM_047418299.1:c.945G>C, XM_047418297.1:c.945G>A, XM_047418297.1:c.945G>C, XM_047418298.1:c.945G>A, XM_047418298.1:c.945G>C, NP_000116.2:p.Met315Ile, NP_000116.2:p.Met315Ile, NP_001116212.1:p.Met315Ile, NP_001116212.1:p.Met315Ile, NP_001116214.1:p.Met315Ile, NP_001116214.1:p.Met315Ile, NP_001278159.1:p.Met317Ile, NP_001278159.1:p.Met317Ile, NP_001116213.1:p.Met315Ile, NP_001116213.1:p.Met315Ile, NP_001278170.1:p.Met314Ile, NP_001278170.1:p.Met314Ile, NP_001315029.1:p.Met142Ile, NP_001315029.1:p.Met142Ile, NP_001372498.1:p.Met315Ile, NP_001372498.1:p.Met315Ile, NP_001372497.1:p.Met315Ile, NP_001372497.1:p.Met315Ile, NP_001372500.1:p.Met315Ile, NP_001372500.1:p.Met315Ile, NP_001372499.1:p.Met315Ile, NP_001372499.1:p.Met315Ile, NP_001372501.1:p.Met315Ile, NP_001372501.1:p.Met315Ile, XP_011533849.1:p.Met315Ile, XP_011533849.1:p.Met315Ile, XP_011533851.1:p.Met72Ile, XP_011533851.1:p.Met72Ile, XP_011533845.1:p.Met315Ile, XP_011533845.1:p.Met315Ile, XP_011533847.1:p.Met315Ile, XP_011533847.1:p.Met315Ile, XP_016865868.1:p.Met315Ile, XP_016865868.1:p.Met315Ile, XP_016865872.1:p.Met52Ile, XP_016865872.1:p.Met52Ile, XP_016865866.1:p.Met315Ile, XP_016865866.1:p.Met315Ile, XP_016865867.1:p.Met315Ile, XP_016865867.1:p.Met315Ile, XP_016865869.1:p.Met315Ile, XP_016865869.1:p.Met315Ile, XP_016865870.1:p.Met315Ile, XP_016865870.1:p.Met315Ile, XP_047274246.1:p.Met315Ile, XP_047274246.1:p.Met315Ile, XP_047274248.1:p.Met315Ile, XP_047274248.1:p.Met315Ile, XP_047274249.1:p.Met315Ile, XP_047274249.1:p.Met315Ile, XP_047274250.1:p.Met315Ile, XP_047274250.1:p.Met315Ile, XP_047274247.1:p.Met315Ile, XP_047274247.1:p.Met315Ile, XP_047274245.1:p.Met315Ile, XP_047274245.1:p.Met315Ile, XP_047274252.1:p.Met315Ile, XP_047274252.1:p.Met315Ile, XP_047274251.1:p.Met315Ile, XP_047274251.1:p.Met315Ile, XP_047274255.1:p.Met315Ile, XP_047274255.1:p.Met315Ile, XP_047274253.1:p.Met315Ile, XP_047274253.1:p.Met315Ile, XP_047274254.1:p.Met315Ile, XP_047274254.1:p.Met315Ile

                8.

                rs1472445862 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  6:152094550 (GRCh38)
                  6:152415685 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:152094549:C:A,NC_000006.12:152094549:C:G,NC_000006.12:152094549:C:T
                  Gene:
                  ESR1 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by cluster
                  HGVS:
                  NC_000006.12:g.152094550C>A, NC_000006.12:g.152094550C>G, NC_000006.12:g.152094550C>T, NC_000006.11:g.152415685C>A, NC_000006.11:g.152415685C>G, NC_000006.11:g.152415685C>T, NG_008493.2:g.442860C>A, NG_008493.2:g.442860C>G, NG_008493.2:g.442860C>T, NM_000125.4:c.1535C>A, NM_000125.4:c.1535C>G, NM_000125.4:c.1535C>T, NM_000125.3:c.1535C>A, NM_000125.3:c.1535C>G, NM_000125.3:c.1535C>T, NM_001122740.2:c.1535C>A, NM_001122740.2:c.1535C>G, NM_001122740.2:c.1535C>T, NM_001122740.1:c.1535C>A, NM_001122740.1:c.1535C>G, NM_001122740.1:c.1535C>T, NM_001122742.2:c.1535C>A, NM_001122742.2:c.1535C>G, NM_001122742.2:c.1535C>T, NM_001122742.1:c.1535C>A, NM_001122742.1:c.1535C>G, NM_001122742.1:c.1535C>T, NM_001291230.2:c.1541C>A, NM_001291230.2:c.1541C>G, NM_001291230.2:c.1541C>T, NM_001291230.1:c.1541C>A, NM_001291230.1:c.1541C>G, NM_001291230.1:c.1541C>T, NM_001122741.2:c.1535C>A, NM_001122741.2:c.1535C>G, NM_001122741.2:c.1535C>T, NM_001122741.1:c.1535C>A, NM_001122741.1:c.1535C>G, NM_001122741.1:c.1535C>T, NM_001291241.2:c.1532C>A, NM_001291241.2:c.1532C>G, NM_001291241.2:c.1532C>T, NM_001291241.1:c.1532C>A, NM_001291241.1:c.1532C>G, NM_001291241.1:c.1532C>T, NM_001385569.1:c.1535C>A, NM_001385569.1:c.1535C>G, NM_001385569.1:c.1535C>T, NM_001385568.1:c.1535C>A, NM_001385568.1:c.1535C>G, NM_001385568.1:c.1535C>T, XM_011535549.3:c.806C>A, XM_011535549.3:c.806C>G, XM_011535549.3:c.806C>T, XM_011535549.2:c.806C>A, XM_011535549.2:c.806C>G, XM_011535549.2:c.806C>T, XM_011535549.1:c.806C>A, XM_011535549.1:c.806C>G, XM_011535549.1:c.806C>T, XM_011535543.3:c.1535C>A, XM_011535543.3:c.1535C>G, XM_011535543.3:c.1535C>T, XM_011535543.2:c.1535C>A, XM_011535543.2:c.1535C>G, XM_011535543.2:c.1535C>T, XM_011535543.1:c.1535C>A, XM_011535543.1:c.1535C>G, XM_011535543.1:c.1535C>T, XM_011535545.3:c.1535C>A, XM_011535545.3:c.1535C>G, XM_011535545.3:c.1535C>T, XM_011535545.2:c.1535C>A, XM_011535545.2:c.1535C>G, XM_011535545.2:c.1535C>T, XM_011535545.1:c.1535C>A, XM_011535545.1:c.1535C>G, XM_011535545.1:c.1535C>T, XM_017010379.2:c.1535C>A, XM_017010379.2:c.1535C>G, XM_017010379.2:c.1535C>T, XM_017010379.1:c.1535C>A, XM_017010379.1:c.1535C>G, XM_017010379.1:c.1535C>T, XM_017010383.2:c.746C>A, XM_017010383.2:c.746C>G, XM_017010383.2:c.746C>T, XM_017010383.1:c.746C>A, XM_017010383.1:c.746C>G, XM_017010383.1:c.746C>T, XM_017010377.2:c.1535C>A, XM_017010377.2:c.1535C>G, XM_017010377.2:c.1535C>T, XM_017010377.1:c.1535C>A, XM_017010377.1:c.1535C>G, XM_017010377.1:c.1535C>T, XM_017010378.2:c.1535C>A, XM_017010378.2:c.1535C>G, XM_017010378.2:c.1535C>T, XM_017010378.1:c.1535C>A, XM_017010378.1:c.1535C>G, XM_017010378.1:c.1535C>T, XM_017010380.2:c.1535C>A, XM_017010380.2:c.1535C>G, XM_017010380.2:c.1535C>T, XM_017010380.1:c.1535C>A, XM_017010380.1:c.1535C>G, XM_017010380.1:c.1535C>T, XM_017010381.2:c.1535C>A, XM_017010381.2:c.1535C>G, XM_017010381.2:c.1535C>T, XM_017010381.1:c.1535C>A, XM_017010381.1:c.1535C>G, XM_017010381.1:c.1535C>T, XM_047418290.1:c.1535C>A, XM_047418290.1:c.1535C>G, XM_047418290.1:c.1535C>T, XM_047418289.1:c.1535C>A, XM_047418289.1:c.1535C>G, XM_047418289.1:c.1535C>T, NP_000116.2:p.Ser512Tyr, NP_000116.2:p.Ser512Cys, NP_000116.2:p.Ser512Phe, NP_001116212.1:p.Ser512Tyr, NP_001116212.1:p.Ser512Cys, NP_001116212.1:p.Ser512Phe, NP_001116214.1:p.Ser512Tyr, NP_001116214.1:p.Ser512Cys, NP_001116214.1:p.Ser512Phe, NP_001278159.1:p.Ser514Tyr, NP_001278159.1:p.Ser514Cys, NP_001278159.1:p.Ser514Phe, NP_001116213.1:p.Ser512Tyr, NP_001116213.1:p.Ser512Cys, NP_001116213.1:p.Ser512Phe, NP_001278170.1:p.Ser511Tyr, NP_001278170.1:p.Ser511Cys, NP_001278170.1:p.Ser511Phe, NP_001372498.1:p.Ser512Tyr, NP_001372498.1:p.Ser512Cys, NP_001372498.1:p.Ser512Phe, NP_001372497.1:p.Ser512Tyr, NP_001372497.1:p.Ser512Cys, NP_001372497.1:p.Ser512Phe, XP_011533851.1:p.Ser269Tyr, XP_011533851.1:p.Ser269Cys, XP_011533851.1:p.Ser269Phe, XP_011533845.1:p.Ser512Tyr, XP_011533845.1:p.Ser512Cys, XP_011533845.1:p.Ser512Phe, XP_011533847.1:p.Ser512Tyr, XP_011533847.1:p.Ser512Cys, XP_011533847.1:p.Ser512Phe, XP_016865868.1:p.Ser512Tyr, XP_016865868.1:p.Ser512Cys, XP_016865868.1:p.Ser512Phe, XP_016865872.1:p.Ser249Tyr, XP_016865872.1:p.Ser249Cys, XP_016865872.1:p.Ser249Phe, XP_016865866.1:p.Ser512Tyr, XP_016865866.1:p.Ser512Cys, XP_016865866.1:p.Ser512Phe, XP_016865867.1:p.Ser512Tyr, XP_016865867.1:p.Ser512Cys, XP_016865867.1:p.Ser512Phe, XP_016865869.1:p.Ser512Tyr, XP_016865869.1:p.Ser512Cys, XP_016865869.1:p.Ser512Phe, XP_016865870.1:p.Ser512Tyr, XP_016865870.1:p.Ser512Cys, XP_016865870.1:p.Ser512Phe, XP_047274246.1:p.Ser512Tyr, XP_047274246.1:p.Ser512Cys, XP_047274246.1:p.Ser512Phe, XP_047274245.1:p.Ser512Tyr, XP_047274245.1:p.Ser512Cys, XP_047274245.1:p.Ser512Phe

                  9.

                  rs1472394921 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    6:151944247 (GRCh38)
                    6:152265382 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:151944246:G:A,NC_000006.12:151944246:G:C
                    Gene:
                    ESR1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.151944247G>A, NC_000006.12:g.151944247G>C, NC_000006.11:g.152265382G>A, NC_000006.11:g.152265382G>C, NG_008493.2:g.292557G>A, NG_008493.2:g.292557G>C, NM_000125.4:c.835G>A, NM_000125.4:c.835G>C, NM_000125.3:c.835G>A, NM_000125.3:c.835G>C, NM_001122740.2:c.835G>A, NM_001122740.2:c.835G>C, NM_001122740.1:c.835G>A, NM_001122740.1:c.835G>C, NM_001122742.2:c.835G>A, NM_001122742.2:c.835G>C, NM_001122742.1:c.835G>A, NM_001122742.1:c.835G>C, NM_001291230.2:c.841G>A, NM_001291230.2:c.841G>C, NM_001291230.1:c.841G>A, NM_001291230.1:c.841G>C, NM_001122741.2:c.835G>A, NM_001122741.2:c.835G>C, NM_001122741.1:c.835G>A, NM_001122741.1:c.835G>C, NM_001291241.2:c.832G>A, NM_001291241.2:c.832G>C, NM_001291241.1:c.832G>A, NM_001291241.1:c.832G>C, NM_001328100.2:c.316G>A, NM_001328100.2:c.316G>C, NM_001328100.1:c.316G>A, NM_001328100.1:c.316G>C, NM_001385569.1:c.835G>A, NM_001385569.1:c.835G>C, NM_001385568.1:c.835G>A, NM_001385568.1:c.835G>C, NM_001385571.1:c.835G>A, NM_001385571.1:c.835G>C, NM_001385570.1:c.835G>A, NM_001385570.1:c.835G>C, NM_001385572.1:c.835G>A, NM_001385572.1:c.835G>C, XM_011535547.3:c.835G>A, XM_011535547.3:c.835G>C, XM_011535547.2:c.835G>A, XM_011535547.2:c.835G>C, XM_011535547.1:c.835G>A, XM_011535547.1:c.835G>C, XM_011535549.3:c.106G>A, XM_011535549.3:c.106G>C, XM_011535549.2:c.106G>A, XM_011535549.2:c.106G>C, XM_011535549.1:c.106G>A, XM_011535549.1:c.106G>C, XM_011535543.3:c.835G>A, XM_011535543.3:c.835G>C, XM_011535543.2:c.835G>A, XM_011535543.2:c.835G>C, XM_011535543.1:c.835G>A, XM_011535543.1:c.835G>C, XM_011535545.3:c.835G>A, XM_011535545.3:c.835G>C, XM_011535545.2:c.835G>A, XM_011535545.2:c.835G>C, XM_011535545.1:c.835G>A, XM_011535545.1:c.835G>C, XM_017010379.2:c.835G>A, XM_017010379.2:c.835G>C, XM_017010379.1:c.835G>A, XM_017010379.1:c.835G>C, XM_017010383.2:c.46G>A, XM_017010383.2:c.46G>C, XM_017010383.1:c.46G>A, XM_017010383.1:c.46G>C, XM_017010377.2:c.835G>A, XM_017010377.2:c.835G>C, XM_017010377.1:c.835G>A, XM_017010377.1:c.835G>C, XM_017010378.2:c.835G>A, XM_017010378.2:c.835G>C, XM_017010378.1:c.835G>A, XM_017010378.1:c.835G>C, XM_017010380.2:c.835G>A, XM_017010380.2:c.835G>C, XM_017010380.1:c.835G>A, XM_017010380.1:c.835G>C, XM_017010381.2:c.835G>A, XM_017010381.2:c.835G>C, XM_017010381.1:c.835G>A, XM_017010381.1:c.835G>C, XM_047418290.1:c.835G>A, XM_047418290.1:c.835G>C, XM_047418292.1:c.835G>A, XM_047418292.1:c.835G>C, XM_047418293.1:c.835G>A, XM_047418293.1:c.835G>C, XM_047418294.1:c.835G>A, XM_047418294.1:c.835G>C, XM_047418291.1:c.835G>A, XM_047418291.1:c.835G>C, XM_047418289.1:c.835G>A, XM_047418289.1:c.835G>C, XM_047418296.1:c.835G>A, XM_047418296.1:c.835G>C, XM_047418295.1:c.835G>A, XM_047418295.1:c.835G>C, XM_047418299.1:c.835G>A, XM_047418299.1:c.835G>C, XM_047418297.1:c.835G>A, XM_047418297.1:c.835G>C, XM_047418298.1:c.835G>A, XM_047418298.1:c.835G>C, NP_000116.2:p.Glu279Lys, NP_000116.2:p.Glu279Gln, NP_001116212.1:p.Glu279Lys, NP_001116212.1:p.Glu279Gln, NP_001116214.1:p.Glu279Lys, NP_001116214.1:p.Glu279Gln, NP_001278159.1:p.Glu281Lys, NP_001278159.1:p.Glu281Gln, NP_001116213.1:p.Glu279Lys, NP_001116213.1:p.Glu279Gln, NP_001278170.1:p.Glu278Lys, NP_001278170.1:p.Glu278Gln, NP_001315029.1:p.Glu106Lys, NP_001315029.1:p.Glu106Gln, NP_001372498.1:p.Glu279Lys, NP_001372498.1:p.Glu279Gln, NP_001372497.1:p.Glu279Lys, NP_001372497.1:p.Glu279Gln, NP_001372500.1:p.Glu279Lys, NP_001372500.1:p.Glu279Gln, NP_001372499.1:p.Glu279Lys, NP_001372499.1:p.Glu279Gln, NP_001372501.1:p.Glu279Lys, NP_001372501.1:p.Glu279Gln, XP_011533849.1:p.Glu279Lys, XP_011533849.1:p.Glu279Gln, XP_011533851.1:p.Glu36Lys, XP_011533851.1:p.Glu36Gln, XP_011533845.1:p.Glu279Lys, XP_011533845.1:p.Glu279Gln, XP_011533847.1:p.Glu279Lys, XP_011533847.1:p.Glu279Gln, XP_016865868.1:p.Glu279Lys, XP_016865868.1:p.Glu279Gln, XP_016865872.1:p.Glu16Lys, XP_016865872.1:p.Glu16Gln, XP_016865866.1:p.Glu279Lys, XP_016865866.1:p.Glu279Gln, XP_016865867.1:p.Glu279Lys, XP_016865867.1:p.Glu279Gln, XP_016865869.1:p.Glu279Lys, XP_016865869.1:p.Glu279Gln, XP_016865870.1:p.Glu279Lys, XP_016865870.1:p.Glu279Gln, XP_047274246.1:p.Glu279Lys, XP_047274246.1:p.Glu279Gln, XP_047274248.1:p.Glu279Lys, XP_047274248.1:p.Glu279Gln, XP_047274249.1:p.Glu279Lys, XP_047274249.1:p.Glu279Gln, XP_047274250.1:p.Glu279Lys, XP_047274250.1:p.Glu279Gln, XP_047274247.1:p.Glu279Lys, XP_047274247.1:p.Glu279Gln, XP_047274245.1:p.Glu279Lys, XP_047274245.1:p.Glu279Gln, XP_047274252.1:p.Glu279Lys, XP_047274252.1:p.Glu279Gln, XP_047274251.1:p.Glu279Lys, XP_047274251.1:p.Glu279Gln, XP_047274255.1:p.Glu279Lys, XP_047274255.1:p.Glu279Gln, XP_047274253.1:p.Glu279Lys, XP_047274253.1:p.Glu279Gln, XP_047274254.1:p.Glu279Lys, XP_047274254.1:p.Glu279Gln

                    10.

                    rs1469939392 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      6:151944475 (GRCh38)
                      6:152265610 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:151944474:G:A,NC_000006.12:151944474:G:C
                      Gene:
                      ESR1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000056/2 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000006.12:g.151944475G>A, NC_000006.12:g.151944475G>C, NC_000006.11:g.152265610G>A, NC_000006.11:g.152265610G>C, NG_008493.2:g.292785G>A, NG_008493.2:g.292785G>C, NM_000125.4:c.1063G>A, NM_000125.4:c.1063G>C, NM_000125.3:c.1063G>A, NM_000125.3:c.1063G>C, NM_001122740.2:c.1063G>A, NM_001122740.2:c.1063G>C, NM_001122740.1:c.1063G>A, NM_001122740.1:c.1063G>C, NM_001122742.2:c.1063G>A, NM_001122742.2:c.1063G>C, NM_001122742.1:c.1063G>A, NM_001122742.1:c.1063G>C, NM_001291230.2:c.1069G>A, NM_001291230.2:c.1069G>C, NM_001291230.1:c.1069G>A, NM_001291230.1:c.1069G>C, NM_001122741.2:c.1063G>A, NM_001122741.2:c.1063G>C, NM_001122741.1:c.1063G>A, NM_001122741.1:c.1063G>C, NM_001291241.2:c.1060G>A, NM_001291241.2:c.1060G>C, NM_001291241.1:c.1060G>A, NM_001291241.1:c.1060G>C, NM_001328100.2:c.544G>A, NM_001328100.2:c.544G>C, NM_001328100.1:c.544G>A, NM_001328100.1:c.544G>C, NM_001385569.1:c.1063G>A, NM_001385569.1:c.1063G>C, NM_001385568.1:c.1063G>A, NM_001385568.1:c.1063G>C, NM_001385571.1:c.1063G>A, NM_001385571.1:c.1063G>C, NM_001385570.1:c.1063G>A, NM_001385570.1:c.1063G>C, NM_001385572.1:c.1063G>A, NM_001385572.1:c.1063G>C, XM_011535547.3:c.1063G>A, XM_011535547.3:c.1063G>C, XM_011535547.2:c.1063G>A, XM_011535547.2:c.1063G>C, XM_011535547.1:c.1063G>A, XM_011535547.1:c.1063G>C, XM_011535549.3:c.334G>A, XM_011535549.3:c.334G>C, XM_011535549.2:c.334G>A, XM_011535549.2:c.334G>C, XM_011535549.1:c.334G>A, XM_011535549.1:c.334G>C, XM_011535543.3:c.1063G>A, XM_011535543.3:c.1063G>C, XM_011535543.2:c.1063G>A, XM_011535543.2:c.1063G>C, XM_011535543.1:c.1063G>A, XM_011535543.1:c.1063G>C, XM_011535545.3:c.1063G>A, XM_011535545.3:c.1063G>C, XM_011535545.2:c.1063G>A, XM_011535545.2:c.1063G>C, XM_011535545.1:c.1063G>A, XM_011535545.1:c.1063G>C, XM_017010379.2:c.1063G>A, XM_017010379.2:c.1063G>C, XM_017010379.1:c.1063G>A, XM_017010379.1:c.1063G>C, XM_017010383.2:c.274G>A, XM_017010383.2:c.274G>C, XM_017010383.1:c.274G>A, XM_017010383.1:c.274G>C, XM_017010377.2:c.1063G>A, XM_017010377.2:c.1063G>C, XM_017010377.1:c.1063G>A, XM_017010377.1:c.1063G>C, XM_017010378.2:c.1063G>A, XM_017010378.2:c.1063G>C, XM_017010378.1:c.1063G>A, XM_017010378.1:c.1063G>C, XM_017010380.2:c.1063G>A, XM_017010380.2:c.1063G>C, XM_017010380.1:c.1063G>A, XM_017010380.1:c.1063G>C, XM_017010381.2:c.1063G>A, XM_017010381.2:c.1063G>C, XM_017010381.1:c.1063G>A, XM_017010381.1:c.1063G>C, XM_047418290.1:c.1063G>A, XM_047418290.1:c.1063G>C, XM_047418292.1:c.1063G>A, XM_047418292.1:c.1063G>C, XM_047418293.1:c.1063G>A, XM_047418293.1:c.1063G>C, XM_047418294.1:c.1063G>A, XM_047418294.1:c.1063G>C, XM_047418291.1:c.1063G>A, XM_047418291.1:c.1063G>C, XM_047418289.1:c.1063G>A, XM_047418289.1:c.1063G>C, XM_047418296.1:c.1063G>A, XM_047418296.1:c.1063G>C, XM_047418295.1:c.1063G>A, XM_047418295.1:c.1063G>C, XM_047418299.1:c.1063G>A, XM_047418299.1:c.1063G>C, XM_047418297.1:c.1063G>A, XM_047418297.1:c.1063G>C, XM_047418298.1:c.1063G>A, XM_047418298.1:c.1063G>C, NP_000116.2:p.Val355Ile, NP_000116.2:p.Val355Leu, NP_001116212.1:p.Val355Ile, NP_001116212.1:p.Val355Leu, NP_001116214.1:p.Val355Ile, NP_001116214.1:p.Val355Leu, NP_001278159.1:p.Val357Ile, NP_001278159.1:p.Val357Leu, NP_001116213.1:p.Val355Ile, NP_001116213.1:p.Val355Leu, NP_001278170.1:p.Val354Ile, NP_001278170.1:p.Val354Leu, NP_001315029.1:p.Val182Ile, NP_001315029.1:p.Val182Leu, NP_001372498.1:p.Val355Ile, NP_001372498.1:p.Val355Leu, NP_001372497.1:p.Val355Ile, NP_001372497.1:p.Val355Leu, NP_001372500.1:p.Val355Ile, NP_001372500.1:p.Val355Leu, NP_001372499.1:p.Val355Ile, NP_001372499.1:p.Val355Leu, NP_001372501.1:p.Val355Ile, NP_001372501.1:p.Val355Leu, XP_011533849.1:p.Val355Ile, XP_011533849.1:p.Val355Leu, XP_011533851.1:p.Val112Ile, XP_011533851.1:p.Val112Leu, XP_011533845.1:p.Val355Ile, XP_011533845.1:p.Val355Leu, XP_011533847.1:p.Val355Ile, XP_011533847.1:p.Val355Leu, XP_016865868.1:p.Val355Ile, XP_016865868.1:p.Val355Leu, XP_016865872.1:p.Val92Ile, XP_016865872.1:p.Val92Leu, XP_016865866.1:p.Val355Ile, XP_016865866.1:p.Val355Leu, XP_016865867.1:p.Val355Ile, XP_016865867.1:p.Val355Leu, XP_016865869.1:p.Val355Ile, XP_016865869.1:p.Val355Leu, XP_016865870.1:p.Val355Ile, XP_016865870.1:p.Val355Leu, XP_047274246.1:p.Val355Ile, XP_047274246.1:p.Val355Leu, XP_047274248.1:p.Val355Ile, XP_047274248.1:p.Val355Leu, XP_047274249.1:p.Val355Ile, XP_047274249.1:p.Val355Leu, XP_047274250.1:p.Val355Ile, XP_047274250.1:p.Val355Leu, XP_047274247.1:p.Val355Ile, XP_047274247.1:p.Val355Leu, XP_047274245.1:p.Val355Ile, XP_047274245.1:p.Val355Leu, XP_047274252.1:p.Val355Ile, XP_047274252.1:p.Val355Leu, XP_047274251.1:p.Val355Ile, XP_047274251.1:p.Val355Leu, XP_047274255.1:p.Val355Ile, XP_047274255.1:p.Val355Leu, XP_047274253.1:p.Val355Ile, XP_047274253.1:p.Val355Leu, XP_047274254.1:p.Val355Ile, XP_047274254.1:p.Val355Leu

                      11.

                      rs1468780226 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        6:152098913 (GRCh38)
                        6:152420048 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:152098912:T:A,NC_000006.12:152098912:T:C
                        Gene:
                        ESR1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.152098913T>A, NC_000006.12:g.152098913T>C, NC_000006.11:g.152420048T>A, NC_000006.11:g.152420048T>C, NG_008493.2:g.447223T>A, NG_008493.2:g.447223T>C, NM_000125.4:c.1735T>A, NM_000125.4:c.1735T>C, NM_000125.3:c.1735T>A, NM_000125.3:c.1735T>C, NM_001122740.2:c.1735T>A, NM_001122740.2:c.1735T>C, NM_001122740.1:c.1735T>A, NM_001122740.1:c.1735T>C, NM_001122742.2:c.1735T>A, NM_001122742.2:c.1735T>C, NM_001122742.1:c.1735T>A, NM_001122742.1:c.1735T>C, NM_001291230.2:c.1741T>A, NM_001291230.2:c.1741T>C, NM_001291230.1:c.1741T>A, NM_001291230.1:c.1741T>C, NM_001122741.2:c.1735T>A, NM_001122741.2:c.1735T>C, NM_001122741.1:c.1735T>A, NM_001122741.1:c.1735T>C, NM_001291241.2:c.1732T>A, NM_001291241.2:c.1732T>C, NM_001291241.1:c.1732T>A, NM_001291241.1:c.1732T>C, NM_001385569.1:c.1735T>A, NM_001385569.1:c.1735T>C, NM_001385568.1:c.1735T>A, NM_001385568.1:c.1735T>C, NM_001385571.1:c.*150T>A, NM_001385571.1:c.*150T>C, NM_001385570.1:c.*150T>A, NM_001385570.1:c.*150T>C, NM_001385572.1:c.*150T>A, NM_001385572.1:c.*150T>C, XM_011535549.3:c.1006T>A, XM_011535549.3:c.1006T>C, XM_011535549.2:c.1006T>A, XM_011535549.2:c.1006T>C, XM_011535549.1:c.1006T>A, XM_011535549.1:c.1006T>C, XM_011535543.3:c.1735T>A, XM_011535543.3:c.1735T>C, XM_011535543.2:c.1735T>A, XM_011535543.2:c.1735T>C, XM_011535543.1:c.1735T>A, XM_011535543.1:c.1735T>C, XM_011535545.3:c.1735T>A, XM_011535545.3:c.1735T>C, XM_011535545.2:c.1735T>A, XM_011535545.2:c.1735T>C, XM_011535545.1:c.1735T>A, XM_011535545.1:c.1735T>C, XM_017010379.2:c.1735T>A, XM_017010379.2:c.1735T>C, XM_017010379.1:c.1735T>A, XM_017010379.1:c.1735T>C, XM_017010383.2:c.946T>A, XM_017010383.2:c.946T>C, XM_017010383.1:c.946T>A, XM_017010383.1:c.946T>C, XM_017010377.2:c.1735T>A, XM_017010377.2:c.1735T>C, XM_017010377.1:c.1735T>A, XM_017010377.1:c.1735T>C, XM_017010378.2:c.1735T>A, XM_017010378.2:c.1735T>C, XM_017010378.1:c.1735T>A, XM_017010378.1:c.1735T>C, XM_017010380.2:c.1735T>A, XM_017010380.2:c.1735T>C, XM_017010380.1:c.1735T>A, XM_017010380.1:c.1735T>C, XM_017010381.2:c.1735T>A, XM_017010381.2:c.1735T>C, XM_017010381.1:c.1735T>A, XM_017010381.1:c.1735T>C, XM_047418290.1:c.1735T>A, XM_047418290.1:c.1735T>C, XM_047418289.1:c.1735T>A, XM_047418289.1:c.1735T>C, XM_047418296.1:c.*150T>A, XM_047418296.1:c.*150T>C, XM_047418295.1:c.*150T>A, XM_047418295.1:c.*150T>C, NP_000116.2:p.Leu579Met, NP_001116212.1:p.Leu579Met, NP_001116214.1:p.Leu579Met, NP_001278159.1:p.Leu581Met, NP_001116213.1:p.Leu579Met, NP_001278170.1:p.Leu578Met, NP_001372498.1:p.Leu579Met, NP_001372497.1:p.Leu579Met, XP_011533851.1:p.Leu336Met, XP_011533845.1:p.Leu579Met, XP_011533847.1:p.Leu579Met, XP_016865868.1:p.Leu579Met, XP_016865872.1:p.Leu316Met, XP_016865866.1:p.Leu579Met, XP_016865867.1:p.Leu579Met, XP_016865869.1:p.Leu579Met, XP_016865870.1:p.Leu579Met, XP_047274246.1:p.Leu579Met, XP_047274245.1:p.Leu579Met

                        12.

                        rs1467954450 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          6:151944387 (GRCh38)
                          6:152265522 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:151944386:G:
                          Gene:
                          ESR1 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant
                          Validated:
                          by cluster
                          HGVS:
                          NC_000006.12:g.151944387del, NC_000006.11:g.152265522del, NG_008493.2:g.292697C>G, NG_008493.2:g.292697del, NM_000125.4:c.975del, NM_000125.3:c.975C>G, NM_000125.3:c.975del, NM_001122740.2:c.975del, NM_001122740.1:c.975C>G, NM_001122740.1:c.975del, NM_001122742.2:c.975del, NM_001122742.1:c.975C>G, NM_001122742.1:c.975del, NM_001291230.2:c.981del, NM_001291230.1:c.981C>G, NM_001291230.1:c.981del, NM_001122741.2:c.975del, NM_001122741.1:c.975C>G, NM_001122741.1:c.975del, NM_001291241.2:c.972del, NM_001291241.1:c.972C>G, NM_001291241.1:c.972del, NM_001328100.2:c.456del, NM_001328100.1:c.456C>G, NM_001328100.1:c.456del, NM_001385569.1:c.975del, NM_001385568.1:c.975del, NM_001385571.1:c.975del, NM_001385570.1:c.975del, NM_001385572.1:c.975del, XM_011535547.3:c.975del, XM_011535547.2:c.975del, XM_011535547.1:c.975del, XM_011535549.3:c.246del, XM_011535549.2:c.246del, XM_011535549.1:c.246del, XM_011535543.3:c.975del, XM_011535543.2:c.975del, XM_011535543.1:c.975del, XM_011535545.3:c.975del, XM_011535545.2:c.975del, XM_011535545.1:c.975del, XM_017010379.2:c.975del, XM_017010379.1:c.975del, XM_017010383.2:c.186del, XM_017010383.1:c.186del, XM_017010377.2:c.975del, XM_017010377.1:c.975del, XM_017010378.2:c.975del, XM_017010378.1:c.975del, XM_017010380.2:c.975del, XM_017010380.1:c.975del, XM_017010381.2:c.975del, XM_017010381.1:c.975del, XM_047418290.1:c.975del, XM_047418292.1:c.975del, XM_047418293.1:c.975del, XM_047418294.1:c.975del, XM_047418291.1:c.975del, XM_047418289.1:c.975del, XM_047418296.1:c.975del, XM_047418295.1:c.975del, XM_047418299.1:c.975del, XM_047418297.1:c.975del, XM_047418298.1:c.975del, NP_000116.2:p.Ile326fs, NP_001116212.1:p.Ile326fs, NP_001116214.1:p.Ile326fs, NP_001278159.1:p.Ile328fs, NP_001116213.1:p.Ile326fs, NP_001278170.1:p.Ile325fs, NP_001315029.1:p.Ile153fs, NP_001372498.1:p.Ile326fs, NP_001372497.1:p.Ile326fs, NP_001372500.1:p.Ile326fs, NP_001372499.1:p.Ile326fs, NP_001372501.1:p.Ile326fs, XP_011533849.1:p.Ile326fs, XP_011533851.1:p.Ile83fs, XP_011533845.1:p.Ile326fs, XP_011533847.1:p.Ile326fs, XP_016865868.1:p.Ile326fs, XP_016865872.1:p.Ile63fs, XP_016865866.1:p.Ile326fs, XP_016865867.1:p.Ile326fs, XP_016865869.1:p.Ile326fs, XP_016865870.1:p.Ile326fs, XP_047274246.1:p.Ile326fs, XP_047274248.1:p.Ile326fs, XP_047274249.1:p.Ile326fs, XP_047274250.1:p.Ile326fs, XP_047274247.1:p.Ile326fs, XP_047274245.1:p.Ile326fs, XP_047274252.1:p.Ile326fs, XP_047274251.1:p.Ile326fs, XP_047274255.1:p.Ile326fs, XP_047274253.1:p.Ile326fs, XP_047274254.1:p.Ile326fs

                          13.

                          rs1464255484 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            6:151944412 (GRCh38)
                            6:152265547 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:151944411:A:T
                            Gene:
                            ESR1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000006.12:g.151944412A>T, NC_000006.11:g.152265547A>T, NG_008493.2:g.292722A>T, NM_000125.4:c.1000A>T, NM_000125.3:c.1000A>T, NM_001122740.2:c.1000A>T, NM_001122740.1:c.1000A>T, NM_001122742.2:c.1000A>T, NM_001122742.1:c.1000A>T, NM_001291230.2:c.1006A>T, NM_001291230.1:c.1006A>T, NM_001122741.2:c.1000A>T, NM_001122741.1:c.1000A>T, NM_001291241.2:c.997A>T, NM_001291241.1:c.997A>T, NM_001328100.2:c.481A>T, NM_001328100.1:c.481A>T, NM_001385569.1:c.1000A>T, NM_001385568.1:c.1000A>T, NM_001385571.1:c.1000A>T, NM_001385570.1:c.1000A>T, NM_001385572.1:c.1000A>T, XM_011535547.3:c.1000A>T, XM_011535547.2:c.1000A>T, XM_011535547.1:c.1000A>T, XM_011535549.3:c.271A>T, XM_011535549.2:c.271A>T, XM_011535549.1:c.271A>T, XM_011535543.3:c.1000A>T, XM_011535543.2:c.1000A>T, XM_011535543.1:c.1000A>T, XM_011535545.3:c.1000A>T, XM_011535545.2:c.1000A>T, XM_011535545.1:c.1000A>T, XM_017010379.2:c.1000A>T, XM_017010379.1:c.1000A>T, XM_017010383.2:c.211A>T, XM_017010383.1:c.211A>T, XM_017010377.2:c.1000A>T, XM_017010377.1:c.1000A>T, XM_017010378.2:c.1000A>T, XM_017010378.1:c.1000A>T, XM_017010380.2:c.1000A>T, XM_017010380.1:c.1000A>T, XM_017010381.2:c.1000A>T, XM_017010381.1:c.1000A>T, XM_047418290.1:c.1000A>T, XM_047418292.1:c.1000A>T, XM_047418293.1:c.1000A>T, XM_047418294.1:c.1000A>T, XM_047418291.1:c.1000A>T, XM_047418289.1:c.1000A>T, XM_047418296.1:c.1000A>T, XM_047418295.1:c.1000A>T, XM_047418299.1:c.1000A>T, XM_047418297.1:c.1000A>T, XM_047418298.1:c.1000A>T, NP_000116.2:p.Thr334Ser, NP_001116212.1:p.Thr334Ser, NP_001116214.1:p.Thr334Ser, NP_001278159.1:p.Thr336Ser, NP_001116213.1:p.Thr334Ser, NP_001278170.1:p.Thr333Ser, NP_001315029.1:p.Thr161Ser, NP_001372498.1:p.Thr334Ser, NP_001372497.1:p.Thr334Ser, NP_001372500.1:p.Thr334Ser, NP_001372499.1:p.Thr334Ser, NP_001372501.1:p.Thr334Ser, XP_011533849.1:p.Thr334Ser, XP_011533851.1:p.Thr91Ser, XP_011533845.1:p.Thr334Ser, XP_011533847.1:p.Thr334Ser, XP_016865868.1:p.Thr334Ser, XP_016865872.1:p.Thr71Ser, XP_016865866.1:p.Thr334Ser, XP_016865867.1:p.Thr334Ser, XP_016865869.1:p.Thr334Ser, XP_016865870.1:p.Thr334Ser, XP_047274246.1:p.Thr334Ser, XP_047274248.1:p.Thr334Ser, XP_047274249.1:p.Thr334Ser, XP_047274250.1:p.Thr334Ser, XP_047274247.1:p.Thr334Ser, XP_047274245.1:p.Thr334Ser, XP_047274252.1:p.Thr334Ser, XP_047274251.1:p.Thr334Ser, XP_047274255.1:p.Thr334Ser, XP_047274253.1:p.Thr334Ser, XP_047274254.1:p.Thr334Ser

                            14.

                            rs1463860678 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              6:152094504 (GRCh38)
                              6:152415639 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:152094503:C:G,NC_000006.12:152094503:C:T
                              Gene:
                              ESR1 (Varview)
                              Functional Consequence:
                              missense_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.152094504C>G, NC_000006.12:g.152094504C>T, NC_000006.11:g.152415639C>G, NC_000006.11:g.152415639C>T, NG_008493.2:g.442814C>G, NG_008493.2:g.442814C>T, NM_000125.4:c.1489C>G, NM_000125.4:c.1489C>T, NM_000125.3:c.1489C>G, NM_000125.3:c.1489C>T, NM_001122740.2:c.1489C>G, NM_001122740.2:c.1489C>T, NM_001122740.1:c.1489C>G, NM_001122740.1:c.1489C>T, NM_001122742.2:c.1489C>G, NM_001122742.2:c.1489C>T, NM_001122742.1:c.1489C>G, NM_001122742.1:c.1489C>T, NM_001291230.2:c.1495C>G, NM_001291230.2:c.1495C>T, NM_001291230.1:c.1495C>G, NM_001291230.1:c.1495C>T, NM_001122741.2:c.1489C>G, NM_001122741.2:c.1489C>T, NM_001122741.1:c.1489C>G, NM_001122741.1:c.1489C>T, NM_001291241.2:c.1486C>G, NM_001291241.2:c.1486C>T, NM_001291241.1:c.1486C>G, NM_001291241.1:c.1486C>T, NM_001385569.1:c.1489C>G, NM_001385569.1:c.1489C>T, NM_001385568.1:c.1489C>G, NM_001385568.1:c.1489C>T, XM_011535549.3:c.760C>G, XM_011535549.3:c.760C>T, XM_011535549.2:c.760C>G, XM_011535549.2:c.760C>T, XM_011535549.1:c.760C>G, XM_011535549.1:c.760C>T, XM_011535543.3:c.1489C>G, XM_011535543.3:c.1489C>T, XM_011535543.2:c.1489C>G, XM_011535543.2:c.1489C>T, XM_011535543.1:c.1489C>G, XM_011535543.1:c.1489C>T, XM_011535545.3:c.1489C>G, XM_011535545.3:c.1489C>T, XM_011535545.2:c.1489C>G, XM_011535545.2:c.1489C>T, XM_011535545.1:c.1489C>G, XM_011535545.1:c.1489C>T, XM_017010379.2:c.1489C>G, XM_017010379.2:c.1489C>T, XM_017010379.1:c.1489C>G, XM_017010379.1:c.1489C>T, XM_017010383.2:c.700C>G, XM_017010383.2:c.700C>T, XM_017010383.1:c.700C>G, XM_017010383.1:c.700C>T, XM_017010377.2:c.1489C>G, XM_017010377.2:c.1489C>T, XM_017010377.1:c.1489C>G, XM_017010377.1:c.1489C>T, XM_017010378.2:c.1489C>G, XM_017010378.2:c.1489C>T, XM_017010378.1:c.1489C>G, XM_017010378.1:c.1489C>T, XM_017010380.2:c.1489C>G, XM_017010380.2:c.1489C>T, XM_017010380.1:c.1489C>G, XM_017010380.1:c.1489C>T, XM_017010381.2:c.1489C>G, XM_017010381.2:c.1489C>T, XM_017010381.1:c.1489C>G, XM_017010381.1:c.1489C>T, XM_047418290.1:c.1489C>G, XM_047418290.1:c.1489C>T, XM_047418289.1:c.1489C>G, XM_047418289.1:c.1489C>T, NP_000116.2:p.Leu497Val, NP_001116212.1:p.Leu497Val, NP_001116214.1:p.Leu497Val, NP_001278159.1:p.Leu499Val, NP_001116213.1:p.Leu497Val, NP_001278170.1:p.Leu496Val, NP_001372498.1:p.Leu497Val, NP_001372497.1:p.Leu497Val, XP_011533851.1:p.Leu254Val, XP_011533845.1:p.Leu497Val, XP_011533847.1:p.Leu497Val, XP_016865868.1:p.Leu497Val, XP_016865872.1:p.Leu234Val, XP_016865866.1:p.Leu497Val, XP_016865867.1:p.Leu497Val, XP_016865869.1:p.Leu497Val, XP_016865870.1:p.Leu497Val, XP_047274246.1:p.Leu497Val, XP_047274245.1:p.Leu497Val

                              15.

                              rs1462893414 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G,T [Show Flanks]
                                Chromosome:
                                6:151944323 (GRCh38)
                                6:152265458 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:151944322:A:C,NC_000006.12:151944322:A:G,NC_000006.12:151944322:A:T
                                Gene:
                                ESR1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.151944323A>C, NC_000006.12:g.151944323A>G, NC_000006.12:g.151944323A>T, NC_000006.11:g.152265458A>C, NC_000006.11:g.152265458A>G, NC_000006.11:g.152265458A>T, NG_008493.2:g.292633A>C, NG_008493.2:g.292633A>G, NG_008493.2:g.292633A>T, NM_000125.4:c.911A>C, NM_000125.4:c.911A>G, NM_000125.4:c.911A>T, NM_000125.3:c.911A>C, NM_000125.3:c.911A>G, NM_000125.3:c.911A>T, NM_001122740.2:c.911A>C, NM_001122740.2:c.911A>G, NM_001122740.2:c.911A>T, NM_001122740.1:c.911A>C, NM_001122740.1:c.911A>G, NM_001122740.1:c.911A>T, NM_001122742.2:c.911A>C, NM_001122742.2:c.911A>G, NM_001122742.2:c.911A>T, NM_001122742.1:c.911A>C, NM_001122742.1:c.911A>G, NM_001122742.1:c.911A>T, NM_001291230.2:c.917A>C, NM_001291230.2:c.917A>G, NM_001291230.2:c.917A>T, NM_001291230.1:c.917A>C, NM_001291230.1:c.917A>G, NM_001291230.1:c.917A>T, NM_001122741.2:c.911A>C, NM_001122741.2:c.911A>G, NM_001122741.2:c.911A>T, NM_001122741.1:c.911A>C, NM_001122741.1:c.911A>G, NM_001122741.1:c.911A>T, NM_001291241.2:c.908A>C, NM_001291241.2:c.908A>G, NM_001291241.2:c.908A>T, NM_001291241.1:c.908A>C, NM_001291241.1:c.908A>G, NM_001291241.1:c.908A>T, NM_001328100.2:c.392A>C, NM_001328100.2:c.392A>G, NM_001328100.2:c.392A>T, NM_001328100.1:c.392A>C, NM_001328100.1:c.392A>G, NM_001328100.1:c.392A>T, NM_001385569.1:c.911A>C, NM_001385569.1:c.911A>G, NM_001385569.1:c.911A>T, NM_001385568.1:c.911A>C, NM_001385568.1:c.911A>G, NM_001385568.1:c.911A>T, NM_001385571.1:c.911A>C, NM_001385571.1:c.911A>G, NM_001385571.1:c.911A>T, NM_001385570.1:c.911A>C, NM_001385570.1:c.911A>G, NM_001385570.1:c.911A>T, NM_001385572.1:c.911A>C, NM_001385572.1:c.911A>G, NM_001385572.1:c.911A>T, XM_011535547.3:c.911A>C, XM_011535547.3:c.911A>G, XM_011535547.3:c.911A>T, XM_011535547.2:c.911A>C, XM_011535547.2:c.911A>G, XM_011535547.2:c.911A>T, XM_011535547.1:c.911A>C, XM_011535547.1:c.911A>G, XM_011535547.1:c.911A>T, XM_011535549.3:c.182A>C, XM_011535549.3:c.182A>G, XM_011535549.3:c.182A>T, XM_011535549.2:c.182A>C, XM_011535549.2:c.182A>G, XM_011535549.2:c.182A>T, XM_011535549.1:c.182A>C, XM_011535549.1:c.182A>G, XM_011535549.1:c.182A>T, XM_011535543.3:c.911A>C, XM_011535543.3:c.911A>G, XM_011535543.3:c.911A>T, XM_011535543.2:c.911A>C, XM_011535543.2:c.911A>G, XM_011535543.2:c.911A>T, XM_011535543.1:c.911A>C, XM_011535543.1:c.911A>G, XM_011535543.1:c.911A>T, XM_011535545.3:c.911A>C, XM_011535545.3:c.911A>G, XM_011535545.3:c.911A>T, XM_011535545.2:c.911A>C, XM_011535545.2:c.911A>G, XM_011535545.2:c.911A>T, XM_011535545.1:c.911A>C, XM_011535545.1:c.911A>G, XM_011535545.1:c.911A>T, XM_017010379.2:c.911A>C, XM_017010379.2:c.911A>G, XM_017010379.2:c.911A>T, XM_017010379.1:c.911A>C, XM_017010379.1:c.911A>G, XM_017010379.1:c.911A>T, XM_017010383.2:c.122A>C, XM_017010383.2:c.122A>G, XM_017010383.2:c.122A>T, XM_017010383.1:c.122A>C, XM_017010383.1:c.122A>G, XM_017010383.1:c.122A>T, XM_017010377.2:c.911A>C, XM_017010377.2:c.911A>G, XM_017010377.2:c.911A>T, XM_017010377.1:c.911A>C, XM_017010377.1:c.911A>G, XM_017010377.1:c.911A>T, XM_017010378.2:c.911A>C, XM_017010378.2:c.911A>G, XM_017010378.2:c.911A>T, XM_017010378.1:c.911A>C, XM_017010378.1:c.911A>G, XM_017010378.1:c.911A>T, XM_017010380.2:c.911A>C, XM_017010380.2:c.911A>G, XM_017010380.2:c.911A>T, XM_017010380.1:c.911A>C, XM_017010380.1:c.911A>G, XM_017010380.1:c.911A>T, XM_017010381.2:c.911A>C, XM_017010381.2:c.911A>G, XM_017010381.2:c.911A>T, XM_017010381.1:c.911A>C, XM_017010381.1:c.911A>G, XM_017010381.1:c.911A>T, XM_047418290.1:c.911A>C, XM_047418290.1:c.911A>G, XM_047418290.1:c.911A>T, XM_047418292.1:c.911A>C, XM_047418292.1:c.911A>G, XM_047418292.1:c.911A>T, XM_047418293.1:c.911A>C, XM_047418293.1:c.911A>G, XM_047418293.1:c.911A>T, XM_047418294.1:c.911A>C, XM_047418294.1:c.911A>G, XM_047418294.1:c.911A>T, XM_047418291.1:c.911A>C, XM_047418291.1:c.911A>G, XM_047418291.1:c.911A>T, XM_047418289.1:c.911A>C, XM_047418289.1:c.911A>G, XM_047418289.1:c.911A>T, XM_047418296.1:c.911A>C, XM_047418296.1:c.911A>G, XM_047418296.1:c.911A>T, XM_047418295.1:c.911A>C, XM_047418295.1:c.911A>G, XM_047418295.1:c.911A>T, XM_047418299.1:c.911A>C, XM_047418299.1:c.911A>G, XM_047418299.1:c.911A>T, XM_047418297.1:c.911A>C, XM_047418297.1:c.911A>G, XM_047418297.1:c.911A>T, XM_047418298.1:c.911A>C, XM_047418298.1:c.911A>G, XM_047418298.1:c.911A>T, NP_000116.2:p.Asn304Thr, NP_000116.2:p.Asn304Ser, NP_000116.2:p.Asn304Ile, NP_001116212.1:p.Asn304Thr, NP_001116212.1:p.Asn304Ser, NP_001116212.1:p.Asn304Ile, NP_001116214.1:p.Asn304Thr, NP_001116214.1:p.Asn304Ser, NP_001116214.1:p.Asn304Ile, NP_001278159.1:p.Asn306Thr, NP_001278159.1:p.Asn306Ser, NP_001278159.1:p.Asn306Ile, NP_001116213.1:p.Asn304Thr, NP_001116213.1:p.Asn304Ser, NP_001116213.1:p.Asn304Ile, NP_001278170.1:p.Asn303Thr, NP_001278170.1:p.Asn303Ser, NP_001278170.1:p.Asn303Ile, NP_001315029.1:p.Asn131Thr, NP_001315029.1:p.Asn131Ser, NP_001315029.1:p.Asn131Ile, NP_001372498.1:p.Asn304Thr, NP_001372498.1:p.Asn304Ser, NP_001372498.1:p.Asn304Ile, NP_001372497.1:p.Asn304Thr, NP_001372497.1:p.Asn304Ser, NP_001372497.1:p.Asn304Ile, NP_001372500.1:p.Asn304Thr, NP_001372500.1:p.Asn304Ser, NP_001372500.1:p.Asn304Ile, NP_001372499.1:p.Asn304Thr, NP_001372499.1:p.Asn304Ser, NP_001372499.1:p.Asn304Ile, NP_001372501.1:p.Asn304Thr, NP_001372501.1:p.Asn304Ser, NP_001372501.1:p.Asn304Ile, XP_011533849.1:p.Asn304Thr, XP_011533849.1:p.Asn304Ser, XP_011533849.1:p.Asn304Ile, XP_011533851.1:p.Asn61Thr, XP_011533851.1:p.Asn61Ser, XP_011533851.1:p.Asn61Ile, XP_011533845.1:p.Asn304Thr, XP_011533845.1:p.Asn304Ser, XP_011533845.1:p.Asn304Ile, XP_011533847.1:p.Asn304Thr, XP_011533847.1:p.Asn304Ser, XP_011533847.1:p.Asn304Ile, XP_016865868.1:p.Asn304Thr, XP_016865868.1:p.Asn304Ser, XP_016865868.1:p.Asn304Ile, XP_016865872.1:p.Asn41Thr, XP_016865872.1:p.Asn41Ser, XP_016865872.1:p.Asn41Ile, XP_016865866.1:p.Asn304Thr, XP_016865866.1:p.Asn304Ser, XP_016865866.1:p.Asn304Ile, XP_016865867.1:p.Asn304Thr, XP_016865867.1:p.Asn304Ser, XP_016865867.1:p.Asn304Ile, XP_016865869.1:p.Asn304Thr, XP_016865869.1:p.Asn304Ser, XP_016865869.1:p.Asn304Ile, XP_016865870.1:p.Asn304Thr, XP_016865870.1:p.Asn304Ser, XP_016865870.1:p.Asn304Ile, XP_047274246.1:p.Asn304Thr, XP_047274246.1:p.Asn304Ser, XP_047274246.1:p.Asn304Ile, XP_047274248.1:p.Asn304Thr, XP_047274248.1:p.Asn304Ser, XP_047274248.1:p.Asn304Ile, XP_047274249.1:p.Asn304Thr, XP_047274249.1:p.Asn304Ser, XP_047274249.1:p.Asn304Ile, XP_047274250.1:p.Asn304Thr, XP_047274250.1:p.Asn304Ser, XP_047274250.1:p.Asn304Ile, XP_047274247.1:p.Asn304Thr, XP_047274247.1:p.Asn304Ser, XP_047274247.1:p.Asn304Ile, XP_047274245.1:p.Asn304Thr, XP_047274245.1:p.Asn304Ser, XP_047274245.1:p.Asn304Ile, XP_047274252.1:p.Asn304Thr, XP_047274252.1:p.Asn304Ser, XP_047274252.1:p.Asn304Ile, XP_047274251.1:p.Asn304Thr, XP_047274251.1:p.Asn304Ser, XP_047274251.1:p.Asn304Ile, XP_047274255.1:p.Asn304Thr, XP_047274255.1:p.Asn304Ser, XP_047274255.1:p.Asn304Ile, XP_047274253.1:p.Asn304Thr, XP_047274253.1:p.Asn304Ser, XP_047274253.1:p.Asn304Ile, XP_047274254.1:p.Asn304Thr, XP_047274254.1:p.Asn304Ser, XP_047274254.1:p.Asn304Ile

                                16.

                                rs1462811215 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  6:152094522 (GRCh38)
                                  6:152415657 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:152094521:C:A,NC_000006.12:152094521:C:G,NC_000006.12:152094521:C:T
                                  Gene:
                                  ESR1 (Varview)
                                  Functional Consequence:
                                  missense_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.152094522C>A, NC_000006.12:g.152094522C>G, NC_000006.12:g.152094522C>T, NC_000006.11:g.152415657C>A, NC_000006.11:g.152415657C>G, NC_000006.11:g.152415657C>T, NG_008493.2:g.442832C>A, NG_008493.2:g.442832C>G, NG_008493.2:g.442832C>T, NM_000125.4:c.1507C>A, NM_000125.4:c.1507C>G, NM_000125.4:c.1507C>T, NM_000125.3:c.1507C>A, NM_000125.3:c.1507C>G, NM_000125.3:c.1507C>T, NM_001122740.2:c.1507C>A, NM_001122740.2:c.1507C>G, NM_001122740.2:c.1507C>T, NM_001122740.1:c.1507C>A, NM_001122740.1:c.1507C>G, NM_001122740.1:c.1507C>T, NM_001122742.2:c.1507C>A, NM_001122742.2:c.1507C>G, NM_001122742.2:c.1507C>T, NM_001122742.1:c.1507C>A, NM_001122742.1:c.1507C>G, NM_001122742.1:c.1507C>T, NM_001291230.2:c.1513C>A, NM_001291230.2:c.1513C>G, NM_001291230.2:c.1513C>T, NM_001291230.1:c.1513C>A, NM_001291230.1:c.1513C>G, NM_001291230.1:c.1513C>T, NM_001122741.2:c.1507C>A, NM_001122741.2:c.1507C>G, NM_001122741.2:c.1507C>T, NM_001122741.1:c.1507C>A, NM_001122741.1:c.1507C>G, NM_001122741.1:c.1507C>T, NM_001291241.2:c.1504C>A, NM_001291241.2:c.1504C>G, NM_001291241.2:c.1504C>T, NM_001291241.1:c.1504C>A, NM_001291241.1:c.1504C>G, NM_001291241.1:c.1504C>T, NM_001385569.1:c.1507C>A, NM_001385569.1:c.1507C>G, NM_001385569.1:c.1507C>T, NM_001385568.1:c.1507C>A, NM_001385568.1:c.1507C>G, NM_001385568.1:c.1507C>T, XM_011535549.3:c.778C>A, XM_011535549.3:c.778C>G, XM_011535549.3:c.778C>T, XM_011535549.2:c.778C>A, XM_011535549.2:c.778C>G, XM_011535549.2:c.778C>T, XM_011535549.1:c.778C>A, XM_011535549.1:c.778C>G, XM_011535549.1:c.778C>T, XM_011535543.3:c.1507C>A, XM_011535543.3:c.1507C>G, XM_011535543.3:c.1507C>T, XM_011535543.2:c.1507C>A, XM_011535543.2:c.1507C>G, XM_011535543.2:c.1507C>T, XM_011535543.1:c.1507C>A, XM_011535543.1:c.1507C>G, XM_011535543.1:c.1507C>T, XM_011535545.3:c.1507C>A, XM_011535545.3:c.1507C>G, XM_011535545.3:c.1507C>T, XM_011535545.2:c.1507C>A, XM_011535545.2:c.1507C>G, XM_011535545.2:c.1507C>T, XM_011535545.1:c.1507C>A, XM_011535545.1:c.1507C>G, XM_011535545.1:c.1507C>T, XM_017010379.2:c.1507C>A, XM_017010379.2:c.1507C>G, XM_017010379.2:c.1507C>T, XM_017010379.1:c.1507C>A, XM_017010379.1:c.1507C>G, XM_017010379.1:c.1507C>T, XM_017010383.2:c.718C>A, XM_017010383.2:c.718C>G, XM_017010383.2:c.718C>T, XM_017010383.1:c.718C>A, XM_017010383.1:c.718C>G, XM_017010383.1:c.718C>T, XM_017010377.2:c.1507C>A, XM_017010377.2:c.1507C>G, XM_017010377.2:c.1507C>T, XM_017010377.1:c.1507C>A, XM_017010377.1:c.1507C>G, XM_017010377.1:c.1507C>T, XM_017010378.2:c.1507C>A, XM_017010378.2:c.1507C>G, XM_017010378.2:c.1507C>T, XM_017010378.1:c.1507C>A, XM_017010378.1:c.1507C>G, XM_017010378.1:c.1507C>T, XM_017010380.2:c.1507C>A, XM_017010380.2:c.1507C>G, XM_017010380.2:c.1507C>T, XM_017010380.1:c.1507C>A, XM_017010380.1:c.1507C>G, XM_017010380.1:c.1507C>T, XM_017010381.2:c.1507C>A, XM_017010381.2:c.1507C>G, XM_017010381.2:c.1507C>T, XM_017010381.1:c.1507C>A, XM_017010381.1:c.1507C>G, XM_017010381.1:c.1507C>T, XM_047418290.1:c.1507C>A, XM_047418290.1:c.1507C>G, XM_047418290.1:c.1507C>T, XM_047418289.1:c.1507C>A, XM_047418289.1:c.1507C>G, XM_047418289.1:c.1507C>T, NP_000116.2:p.Arg503Gly, NP_000116.2:p.Arg503Trp, NP_001116212.1:p.Arg503Gly, NP_001116212.1:p.Arg503Trp, NP_001116214.1:p.Arg503Gly, NP_001116214.1:p.Arg503Trp, NP_001278159.1:p.Arg505Gly, NP_001278159.1:p.Arg505Trp, NP_001116213.1:p.Arg503Gly, NP_001116213.1:p.Arg503Trp, NP_001278170.1:p.Arg502Gly, NP_001278170.1:p.Arg502Trp, NP_001372498.1:p.Arg503Gly, NP_001372498.1:p.Arg503Trp, NP_001372497.1:p.Arg503Gly, NP_001372497.1:p.Arg503Trp, XP_011533851.1:p.Arg260Gly, XP_011533851.1:p.Arg260Trp, XP_011533845.1:p.Arg503Gly, XP_011533845.1:p.Arg503Trp, XP_011533847.1:p.Arg503Gly, XP_011533847.1:p.Arg503Trp, XP_016865868.1:p.Arg503Gly, XP_016865868.1:p.Arg503Trp, XP_016865872.1:p.Arg240Gly, XP_016865872.1:p.Arg240Trp, XP_016865866.1:p.Arg503Gly, XP_016865866.1:p.Arg503Trp, XP_016865867.1:p.Arg503Gly, XP_016865867.1:p.Arg503Trp, XP_016865869.1:p.Arg503Gly, XP_016865869.1:p.Arg503Trp, XP_016865870.1:p.Arg503Gly, XP_016865870.1:p.Arg503Trp, XP_047274246.1:p.Arg503Gly, XP_047274246.1:p.Arg503Trp, XP_047274245.1:p.Arg503Gly, XP_047274245.1:p.Arg503Trp

                                  17.

                                  rs1462204859 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G,T [Show Flanks]
                                    Chromosome:
                                    6:151944455 (GRCh38)
                                    6:152265590 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:151944454:A:C,NC_000006.12:151944454:A:G,NC_000006.12:151944454:A:T
                                    Gene:
                                    ESR1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.151944455A>C, NC_000006.12:g.151944455A>G, NC_000006.12:g.151944455A>T, NC_000006.11:g.152265590A>C, NC_000006.11:g.152265590A>G, NC_000006.11:g.152265590A>T, NG_008493.2:g.292765A>C, NG_008493.2:g.292765A>G, NG_008493.2:g.292765A>T, NM_000125.4:c.1043A>C, NM_000125.4:c.1043A>G, NM_000125.4:c.1043A>T, NM_000125.3:c.1043A>C, NM_000125.3:c.1043A>G, NM_000125.3:c.1043A>T, NM_001122740.2:c.1043A>C, NM_001122740.2:c.1043A>G, NM_001122740.2:c.1043A>T, NM_001122740.1:c.1043A>C, NM_001122740.1:c.1043A>G, NM_001122740.1:c.1043A>T, NM_001122742.2:c.1043A>C, NM_001122742.2:c.1043A>G, NM_001122742.2:c.1043A>T, NM_001122742.1:c.1043A>C, NM_001122742.1:c.1043A>G, NM_001122742.1:c.1043A>T, NM_001291230.2:c.1049A>C, NM_001291230.2:c.1049A>G, NM_001291230.2:c.1049A>T, NM_001291230.1:c.1049A>C, NM_001291230.1:c.1049A>G, NM_001291230.1:c.1049A>T, NM_001122741.2:c.1043A>C, NM_001122741.2:c.1043A>G, NM_001122741.2:c.1043A>T, NM_001122741.1:c.1043A>C, NM_001122741.1:c.1043A>G, NM_001122741.1:c.1043A>T, NM_001291241.2:c.1040A>C, NM_001291241.2:c.1040A>G, NM_001291241.2:c.1040A>T, NM_001291241.1:c.1040A>C, NM_001291241.1:c.1040A>G, NM_001291241.1:c.1040A>T, NM_001328100.2:c.524A>C, NM_001328100.2:c.524A>G, NM_001328100.2:c.524A>T, NM_001328100.1:c.524A>C, NM_001328100.1:c.524A>G, NM_001328100.1:c.524A>T, NM_001385569.1:c.1043A>C, NM_001385569.1:c.1043A>G, NM_001385569.1:c.1043A>T, NM_001385568.1:c.1043A>C, NM_001385568.1:c.1043A>G, NM_001385568.1:c.1043A>T, NM_001385571.1:c.1043A>C, NM_001385571.1:c.1043A>G, NM_001385571.1:c.1043A>T, NM_001385570.1:c.1043A>C, NM_001385570.1:c.1043A>G, NM_001385570.1:c.1043A>T, NM_001385572.1:c.1043A>C, NM_001385572.1:c.1043A>G, NM_001385572.1:c.1043A>T, XM_011535547.3:c.1043A>C, XM_011535547.3:c.1043A>G, XM_011535547.3:c.1043A>T, XM_011535547.2:c.1043A>C, XM_011535547.2:c.1043A>G, XM_011535547.2:c.1043A>T, XM_011535547.1:c.1043A>C, XM_011535547.1:c.1043A>G, XM_011535547.1:c.1043A>T, XM_011535549.3:c.314A>C, XM_011535549.3:c.314A>G, XM_011535549.3:c.314A>T, XM_011535549.2:c.314A>C, XM_011535549.2:c.314A>G, XM_011535549.2:c.314A>T, XM_011535549.1:c.314A>C, XM_011535549.1:c.314A>G, XM_011535549.1:c.314A>T, XM_011535543.3:c.1043A>C, XM_011535543.3:c.1043A>G, XM_011535543.3:c.1043A>T, XM_011535543.2:c.1043A>C, XM_011535543.2:c.1043A>G, XM_011535543.2:c.1043A>T, XM_011535543.1:c.1043A>C, XM_011535543.1:c.1043A>G, XM_011535543.1:c.1043A>T, XM_011535545.3:c.1043A>C, XM_011535545.3:c.1043A>G, XM_011535545.3:c.1043A>T, XM_011535545.2:c.1043A>C, XM_011535545.2:c.1043A>G, XM_011535545.2:c.1043A>T, XM_011535545.1:c.1043A>C, XM_011535545.1:c.1043A>G, XM_011535545.1:c.1043A>T, XM_017010379.2:c.1043A>C, XM_017010379.2:c.1043A>G, XM_017010379.2:c.1043A>T, XM_017010379.1:c.1043A>C, XM_017010379.1:c.1043A>G, XM_017010379.1:c.1043A>T, XM_017010383.2:c.254A>C, XM_017010383.2:c.254A>G, XM_017010383.2:c.254A>T, XM_017010383.1:c.254A>C, XM_017010383.1:c.254A>G, XM_017010383.1:c.254A>T, XM_017010377.2:c.1043A>C, XM_017010377.2:c.1043A>G, XM_017010377.2:c.1043A>T, XM_017010377.1:c.1043A>C, XM_017010377.1:c.1043A>G, XM_017010377.1:c.1043A>T, XM_017010378.2:c.1043A>C, XM_017010378.2:c.1043A>G, XM_017010378.2:c.1043A>T, XM_017010378.1:c.1043A>C, XM_017010378.1:c.1043A>G, XM_017010378.1:c.1043A>T, XM_017010380.2:c.1043A>C, XM_017010380.2:c.1043A>G, XM_017010380.2:c.1043A>T, XM_017010380.1:c.1043A>C, XM_017010380.1:c.1043A>G, XM_017010380.1:c.1043A>T, XM_017010381.2:c.1043A>C, XM_017010381.2:c.1043A>G, XM_017010381.2:c.1043A>T, XM_017010381.1:c.1043A>C, XM_017010381.1:c.1043A>G, XM_017010381.1:c.1043A>T, XM_047418290.1:c.1043A>C, XM_047418290.1:c.1043A>G, XM_047418290.1:c.1043A>T, XM_047418292.1:c.1043A>C, XM_047418292.1:c.1043A>G, XM_047418292.1:c.1043A>T, XM_047418293.1:c.1043A>C, XM_047418293.1:c.1043A>G, XM_047418293.1:c.1043A>T, XM_047418294.1:c.1043A>C, XM_047418294.1:c.1043A>G, XM_047418294.1:c.1043A>T, XM_047418291.1:c.1043A>C, XM_047418291.1:c.1043A>G, XM_047418291.1:c.1043A>T, XM_047418289.1:c.1043A>C, XM_047418289.1:c.1043A>G, XM_047418289.1:c.1043A>T, XM_047418296.1:c.1043A>C, XM_047418296.1:c.1043A>G, XM_047418296.1:c.1043A>T, XM_047418295.1:c.1043A>C, XM_047418295.1:c.1043A>G, XM_047418295.1:c.1043A>T, XM_047418299.1:c.1043A>C, XM_047418299.1:c.1043A>G, XM_047418299.1:c.1043A>T, XM_047418297.1:c.1043A>C, XM_047418297.1:c.1043A>G, XM_047418297.1:c.1043A>T, XM_047418298.1:c.1043A>C, XM_047418298.1:c.1043A>G, XM_047418298.1:c.1043A>T, NP_000116.2:p.Asn348Thr, NP_000116.2:p.Asn348Ser, NP_000116.2:p.Asn348Ile, NP_001116212.1:p.Asn348Thr, NP_001116212.1:p.Asn348Ser, NP_001116212.1:p.Asn348Ile, NP_001116214.1:p.Asn348Thr, NP_001116214.1:p.Asn348Ser, NP_001116214.1:p.Asn348Ile, NP_001278159.1:p.Asn350Thr, NP_001278159.1:p.Asn350Ser, NP_001278159.1:p.Asn350Ile, NP_001116213.1:p.Asn348Thr, NP_001116213.1:p.Asn348Ser, NP_001116213.1:p.Asn348Ile, NP_001278170.1:p.Asn347Thr, NP_001278170.1:p.Asn347Ser, NP_001278170.1:p.Asn347Ile, NP_001315029.1:p.Asn175Thr, NP_001315029.1:p.Asn175Ser, NP_001315029.1:p.Asn175Ile, NP_001372498.1:p.Asn348Thr, NP_001372498.1:p.Asn348Ser, NP_001372498.1:p.Asn348Ile, NP_001372497.1:p.Asn348Thr, NP_001372497.1:p.Asn348Ser, NP_001372497.1:p.Asn348Ile, NP_001372500.1:p.Asn348Thr, NP_001372500.1:p.Asn348Ser, NP_001372500.1:p.Asn348Ile, NP_001372499.1:p.Asn348Thr, NP_001372499.1:p.Asn348Ser, NP_001372499.1:p.Asn348Ile, NP_001372501.1:p.Asn348Thr, NP_001372501.1:p.Asn348Ser, NP_001372501.1:p.Asn348Ile, XP_011533849.1:p.Asn348Thr, XP_011533849.1:p.Asn348Ser, XP_011533849.1:p.Asn348Ile, XP_011533851.1:p.Asn105Thr, XP_011533851.1:p.Asn105Ser, XP_011533851.1:p.Asn105Ile, XP_011533845.1:p.Asn348Thr, XP_011533845.1:p.Asn348Ser, XP_011533845.1:p.Asn348Ile, XP_011533847.1:p.Asn348Thr, XP_011533847.1:p.Asn348Ser, XP_011533847.1:p.Asn348Ile, XP_016865868.1:p.Asn348Thr, XP_016865868.1:p.Asn348Ser, XP_016865868.1:p.Asn348Ile, XP_016865872.1:p.Asn85Thr, XP_016865872.1:p.Asn85Ser, XP_016865872.1:p.Asn85Ile, XP_016865866.1:p.Asn348Thr, XP_016865866.1:p.Asn348Ser, XP_016865866.1:p.Asn348Ile, XP_016865867.1:p.Asn348Thr, XP_016865867.1:p.Asn348Ser, XP_016865867.1:p.Asn348Ile, XP_016865869.1:p.Asn348Thr, XP_016865869.1:p.Asn348Ser, XP_016865869.1:p.Asn348Ile, XP_016865870.1:p.Asn348Thr, XP_016865870.1:p.Asn348Ser, XP_016865870.1:p.Asn348Ile, XP_047274246.1:p.Asn348Thr, XP_047274246.1:p.Asn348Ser, XP_047274246.1:p.Asn348Ile, XP_047274248.1:p.Asn348Thr, XP_047274248.1:p.Asn348Ser, XP_047274248.1:p.Asn348Ile, XP_047274249.1:p.Asn348Thr, XP_047274249.1:p.Asn348Ser, XP_047274249.1:p.Asn348Ile, XP_047274250.1:p.Asn348Thr, XP_047274250.1:p.Asn348Ser, XP_047274250.1:p.Asn348Ile, XP_047274247.1:p.Asn348Thr, XP_047274247.1:p.Asn348Ser, XP_047274247.1:p.Asn348Ile, XP_047274245.1:p.Asn348Thr, XP_047274245.1:p.Asn348Ser, XP_047274245.1:p.Asn348Ile, XP_047274252.1:p.Asn348Thr, XP_047274252.1:p.Asn348Ser, XP_047274252.1:p.Asn348Ile, XP_047274251.1:p.Asn348Thr, XP_047274251.1:p.Asn348Ser, XP_047274251.1:p.Asn348Ile, XP_047274255.1:p.Asn348Thr, XP_047274255.1:p.Asn348Ser, XP_047274255.1:p.Asn348Ile, XP_047274253.1:p.Asn348Thr, XP_047274253.1:p.Asn348Ser, XP_047274253.1:p.Asn348Ile, XP_047274254.1:p.Asn348Thr, XP_047274254.1:p.Asn348Ser, XP_047274254.1:p.Asn348Ile

                                    18.

                                    rs1456788106 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      6:152098735 (GRCh38)
                                      6:152419870 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:152098734:C:G,NC_000006.12:152098734:C:T
                                      Gene:
                                      ESR1 (Varview)
                                      Functional Consequence:
                                      missense_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.152098735C>G, NC_000006.12:g.152098735C>T, NC_000006.11:g.152419870C>G, NC_000006.11:g.152419870C>T, NG_008493.2:g.447045C>G, NG_008493.2:g.447045C>T, NM_000125.4:c.1557C>G, NM_000125.4:c.1557C>T, NM_000125.3:c.1557C>G, NM_000125.3:c.1557C>T, NM_001122740.2:c.1557C>G, NM_001122740.2:c.1557C>T, NM_001122740.1:c.1557C>G, NM_001122740.1:c.1557C>T, NM_001122742.2:c.1557C>G, NM_001122742.2:c.1557C>T, NM_001122742.1:c.1557C>G, NM_001122742.1:c.1557C>T, NM_001291230.2:c.1563C>G, NM_001291230.2:c.1563C>T, NM_001291230.1:c.1563C>G, NM_001291230.1:c.1563C>T, NM_001122741.2:c.1557C>G, NM_001122741.2:c.1557C>T, NM_001122741.1:c.1557C>G, NM_001122741.1:c.1557C>T, NM_001291241.2:c.1554C>G, NM_001291241.2:c.1554C>T, NM_001291241.1:c.1554C>G, NM_001291241.1:c.1554C>T, NM_001385569.1:c.1557C>G, NM_001385569.1:c.1557C>T, NM_001385568.1:c.1557C>G, NM_001385568.1:c.1557C>T, NM_001385571.1:c.1373C>G, NM_001385571.1:c.1373C>T, NM_001385570.1:c.1373C>G, NM_001385570.1:c.1373C>T, NM_001385572.1:c.1373C>G, NM_001385572.1:c.1373C>T, XM_011535549.3:c.828C>G, XM_011535549.3:c.828C>T, XM_011535549.2:c.828C>G, XM_011535549.2:c.828C>T, XM_011535549.1:c.828C>G, XM_011535549.1:c.828C>T, XM_011535543.3:c.1557C>G, XM_011535543.3:c.1557C>T, XM_011535543.2:c.1557C>G, XM_011535543.2:c.1557C>T, XM_011535543.1:c.1557C>G, XM_011535543.1:c.1557C>T, XM_011535545.3:c.1557C>G, XM_011535545.3:c.1557C>T, XM_011535545.2:c.1557C>G, XM_011535545.2:c.1557C>T, XM_011535545.1:c.1557C>G, XM_011535545.1:c.1557C>T, XM_017010379.2:c.1557C>G, XM_017010379.2:c.1557C>T, XM_017010379.1:c.1557C>G, XM_017010379.1:c.1557C>T, XM_017010383.2:c.768C>G, XM_017010383.2:c.768C>T, XM_017010383.1:c.768C>G, XM_017010383.1:c.768C>T, XM_017010377.2:c.1557C>G, XM_017010377.2:c.1557C>T, XM_017010377.1:c.1557C>G, XM_017010377.1:c.1557C>T, XM_017010378.2:c.1557C>G, XM_017010378.2:c.1557C>T, XM_017010378.1:c.1557C>G, XM_017010378.1:c.1557C>T, XM_017010380.2:c.1557C>G, XM_017010380.2:c.1557C>T, XM_017010380.1:c.1557C>G, XM_017010380.1:c.1557C>T, XM_017010381.2:c.1557C>G, XM_017010381.2:c.1557C>T, XM_017010381.1:c.1557C>G, XM_017010381.1:c.1557C>T, XM_047418290.1:c.1557C>G, XM_047418290.1:c.1557C>T, XM_047418289.1:c.1557C>G, XM_047418289.1:c.1557C>T, XM_047418296.1:c.1373C>G, XM_047418296.1:c.1373C>T, XM_047418295.1:c.1373C>G, XM_047418295.1:c.1373C>T, NP_000116.2:p.Asn519Lys, NP_001116212.1:p.Asn519Lys, NP_001116214.1:p.Asn519Lys, NP_001278159.1:p.Asn521Lys, NP_001116213.1:p.Asn519Lys, NP_001278170.1:p.Asn518Lys, NP_001372498.1:p.Asn519Lys, NP_001372497.1:p.Asn519Lys, NP_001372500.1:p.Thr458Arg, NP_001372500.1:p.Thr458Ile, NP_001372499.1:p.Thr458Arg, NP_001372499.1:p.Thr458Ile, NP_001372501.1:p.Thr458Arg, NP_001372501.1:p.Thr458Ile, XP_011533851.1:p.Asn276Lys, XP_011533845.1:p.Asn519Lys, XP_011533847.1:p.Asn519Lys, XP_016865868.1:p.Asn519Lys, XP_016865872.1:p.Asn256Lys, XP_016865866.1:p.Asn519Lys, XP_016865867.1:p.Asn519Lys, XP_016865869.1:p.Asn519Lys, XP_016865870.1:p.Asn519Lys, XP_047274246.1:p.Asn519Lys, XP_047274245.1:p.Asn519Lys, XP_047274252.1:p.Thr458Arg, XP_047274252.1:p.Thr458Ile, XP_047274251.1:p.Thr458Arg, XP_047274251.1:p.Thr458Ile

                                      19.

                                      rs1455751791 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        6:152011735 (GRCh38)
                                        6:152332870 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:152011734:C:G,NC_000006.12:152011734:C:T
                                        Gene:
                                        ESR1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.152011735C>G, NC_000006.12:g.152011735C>T, NC_000006.11:g.152332870C>G, NC_000006.11:g.152332870C>T, NG_008493.2:g.360045C>G, NG_008493.2:g.360045C>T, NM_000125.4:c.1176C>G, NM_000125.4:c.1176C>T, NM_000125.3:c.1176C>G, NM_000125.3:c.1176C>T, NM_001122740.2:c.1176C>G, NM_001122740.2:c.1176C>T, NM_001122740.1:c.1176C>G, NM_001122740.1:c.1176C>T, NM_001122742.2:c.1176C>G, NM_001122742.2:c.1176C>T, NM_001122742.1:c.1176C>G, NM_001122742.1:c.1176C>T, NM_001291230.2:c.1182C>G, NM_001291230.2:c.1182C>T, NM_001291230.1:c.1182C>G, NM_001291230.1:c.1182C>T, NM_001122741.2:c.1176C>G, NM_001122741.2:c.1176C>T, NM_001122741.1:c.1176C>G, NM_001122741.1:c.1176C>T, NM_001291241.2:c.1173C>G, NM_001291241.2:c.1173C>T, NM_001291241.1:c.1173C>G, NM_001291241.1:c.1173C>T, NM_001328100.2:c.657C>G, NM_001328100.2:c.657C>T, NM_001328100.1:c.657C>G, NM_001328100.1:c.657C>T, NM_001385569.1:c.1176C>G, NM_001385569.1:c.1176C>T, NM_001385568.1:c.1176C>G, NM_001385568.1:c.1176C>T, NM_001385571.1:c.1176C>G, NM_001385571.1:c.1176C>T, NM_001385570.1:c.1176C>G, NM_001385570.1:c.1176C>T, NM_001385572.1:c.1176C>G, NM_001385572.1:c.1176C>T, XM_011535547.3:c.1176C>G, XM_011535547.3:c.1176C>T, XM_011535547.2:c.1176C>G, XM_011535547.2:c.1176C>T, XM_011535547.1:c.1176C>G, XM_011535547.1:c.1176C>T, XM_011535549.3:c.447C>G, XM_011535549.3:c.447C>T, XM_011535549.2:c.447C>G, XM_011535549.2:c.447C>T, XM_011535549.1:c.447C>G, XM_011535549.1:c.447C>T, XM_011535543.3:c.1176C>G, XM_011535543.3:c.1176C>T, XM_011535543.2:c.1176C>G, XM_011535543.2:c.1176C>T, XM_011535543.1:c.1176C>G, XM_011535543.1:c.1176C>T, XM_011535545.3:c.1176C>G, XM_011535545.3:c.1176C>T, XM_011535545.2:c.1176C>G, XM_011535545.2:c.1176C>T, XM_011535545.1:c.1176C>G, XM_011535545.1:c.1176C>T, XM_017010379.2:c.1176C>G, XM_017010379.2:c.1176C>T, XM_017010379.1:c.1176C>G, XM_017010379.1:c.1176C>T, XM_017010383.2:c.387C>G, XM_017010383.2:c.387C>T, XM_017010383.1:c.387C>G, XM_017010383.1:c.387C>T, XM_017010377.2:c.1176C>G, XM_017010377.2:c.1176C>T, XM_017010377.1:c.1176C>G, XM_017010377.1:c.1176C>T, XM_017010378.2:c.1176C>G, XM_017010378.2:c.1176C>T, XM_017010378.1:c.1176C>G, XM_017010378.1:c.1176C>T, XM_017010380.2:c.1176C>G, XM_017010380.2:c.1176C>T, XM_017010380.1:c.1176C>G, XM_017010380.1:c.1176C>T, XM_017010381.2:c.1176C>G, XM_017010381.2:c.1176C>T, XM_017010381.1:c.1176C>G, XM_017010381.1:c.1176C>T, XM_047418290.1:c.1176C>G, XM_047418290.1:c.1176C>T, XM_047418292.1:c.1176C>G, XM_047418292.1:c.1176C>T, XM_047418293.1:c.1176C>G, XM_047418293.1:c.1176C>T, XM_047418294.1:c.1176C>G, XM_047418294.1:c.1176C>T, XM_047418291.1:c.1176C>G, XM_047418291.1:c.1176C>T, XM_047418289.1:c.1176C>G, XM_047418289.1:c.1176C>T, XM_047418296.1:c.1176C>G, XM_047418296.1:c.1176C>T, XM_047418295.1:c.1176C>G, XM_047418295.1:c.1176C>T

                                        20.

                                        rs1455484428 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          6:152094566 (GRCh38)
                                          6:152415701 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:152094565:G:A,NC_000006.12:152094565:G:C
                                          Gene:
                                          ESR1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.152094566G>A, NC_000006.12:g.152094566G>C, NC_000006.11:g.152415701G>A, NC_000006.11:g.152415701G>C, NG_008493.2:g.442876G>A, NG_008493.2:g.442876G>C, NM_000125.4:c.1551G>A, NM_000125.4:c.1551G>C, NM_000125.3:c.1551G>A, NM_000125.3:c.1551G>C, NM_001122740.2:c.1551G>A, NM_001122740.2:c.1551G>C, NM_001122740.1:c.1551G>A, NM_001122740.1:c.1551G>C, NM_001122742.2:c.1551G>A, NM_001122742.2:c.1551G>C, NM_001122742.1:c.1551G>A, NM_001122742.1:c.1551G>C, NM_001291230.2:c.1557G>A, NM_001291230.2:c.1557G>C, NM_001291230.1:c.1557G>A, NM_001291230.1:c.1557G>C, NM_001122741.2:c.1551G>A, NM_001122741.2:c.1551G>C, NM_001122741.1:c.1551G>A, NM_001122741.1:c.1551G>C, NM_001291241.2:c.1548G>A, NM_001291241.2:c.1548G>C, NM_001291241.1:c.1548G>A, NM_001291241.1:c.1548G>C, NM_001385569.1:c.1551G>A, NM_001385569.1:c.1551G>C, NM_001385568.1:c.1551G>A, NM_001385568.1:c.1551G>C, XM_011535549.3:c.822G>A, XM_011535549.3:c.822G>C, XM_011535549.2:c.822G>A, XM_011535549.2:c.822G>C, XM_011535549.1:c.822G>A, XM_011535549.1:c.822G>C, XM_011535543.3:c.1551G>A, XM_011535543.3:c.1551G>C, XM_011535543.2:c.1551G>A, XM_011535543.2:c.1551G>C, XM_011535543.1:c.1551G>A, XM_011535543.1:c.1551G>C, XM_011535545.3:c.1551G>A, XM_011535545.3:c.1551G>C, XM_011535545.2:c.1551G>A, XM_011535545.2:c.1551G>C, XM_011535545.1:c.1551G>A, XM_011535545.1:c.1551G>C, XM_017010379.2:c.1551G>A, XM_017010379.2:c.1551G>C, XM_017010379.1:c.1551G>A, XM_017010379.1:c.1551G>C, XM_017010383.2:c.762G>A, XM_017010383.2:c.762G>C, XM_017010383.1:c.762G>A, XM_017010383.1:c.762G>C, XM_017010377.2:c.1551G>A, XM_017010377.2:c.1551G>C, XM_017010377.1:c.1551G>A, XM_017010377.1:c.1551G>C, XM_017010378.2:c.1551G>A, XM_017010378.2:c.1551G>C, XM_017010378.1:c.1551G>A, XM_017010378.1:c.1551G>C, XM_017010380.2:c.1551G>A, XM_017010380.2:c.1551G>C, XM_017010380.1:c.1551G>A, XM_017010380.1:c.1551G>C, XM_017010381.2:c.1551G>A, XM_017010381.2:c.1551G>C, XM_017010381.1:c.1551G>A, XM_017010381.1:c.1551G>C, XM_047418290.1:c.1551G>A, XM_047418290.1:c.1551G>C, XM_047418289.1:c.1551G>A, XM_047418289.1:c.1551G>C, NP_000116.2:p.Met517Ile, NP_000116.2:p.Met517Ile, NP_001116212.1:p.Met517Ile, NP_001116212.1:p.Met517Ile, NP_001116214.1:p.Met517Ile, NP_001116214.1:p.Met517Ile, NP_001278159.1:p.Met519Ile, NP_001278159.1:p.Met519Ile, NP_001116213.1:p.Met517Ile, NP_001116213.1:p.Met517Ile, NP_001278170.1:p.Met516Ile, NP_001278170.1:p.Met516Ile, NP_001372498.1:p.Met517Ile, NP_001372498.1:p.Met517Ile, NP_001372497.1:p.Met517Ile, NP_001372497.1:p.Met517Ile, XP_011533851.1:p.Met274Ile, XP_011533851.1:p.Met274Ile, XP_011533845.1:p.Met517Ile, XP_011533845.1:p.Met517Ile, XP_011533847.1:p.Met517Ile, XP_011533847.1:p.Met517Ile, XP_016865868.1:p.Met517Ile, XP_016865868.1:p.Met517Ile, XP_016865872.1:p.Met254Ile, XP_016865872.1:p.Met254Ile, XP_016865866.1:p.Met517Ile, XP_016865866.1:p.Met517Ile, XP_016865867.1:p.Met517Ile, XP_016865867.1:p.Met517Ile, XP_016865869.1:p.Met517Ile, XP_016865869.1:p.Met517Ile, XP_016865870.1:p.Met517Ile, XP_016865870.1:p.Met517Ile, XP_047274246.1:p.Met517Ile, XP_047274246.1:p.Met517Ile, XP_047274245.1:p.Met517Ile, XP_047274245.1:p.Met517Ile

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