{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366213277",
  "communityStandardTitle": [
    "NM_000125.4(ESR1):c.911A>C (p.Asn304Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.152265458A>C?assembly=hg19",
        "id": "chr6:g.152265458A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.151944323A>C?assembly=hg38",
        "id": "chr6:g.151944323A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1462893414",
        "rs": 1462893414
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 151944323,
          "referenceAllele": "A",
          "start": 151944322
        }
      ],
      "hgvs": [
        "NC_000006.12:g.151944323A>C",
        "CM000668.2:g.151944323A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 152265458,
          "referenceAllele": "A",
          "start": 152265457
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152265458A>C",
        "CM000668.1:g.152265458A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 152307151,
          "referenceAllele": "A",
          "start": 152307150
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152307151A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258828,
          "referenceAllele": "A",
          "start": 258827
        }
      ],
      "hgvs": [
        "NG_008493.1:g.258828A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292633,
          "referenceAllele": "A",
          "start": 292632
        }
      ],
      "hgvs": [
        "NG_008493.2:g.292633A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616107"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000206249.8:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206249.3:p.Asn304Thr",
        "hgvsWellDefined": "ENSP00000206249.3:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206249.8:c.911A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000125.4:c.911A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206249.3:p.Asn304Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000116.2:p.Asn304Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42,
          "endIntronDirection": "+",
          "endIntronOffset": 74,
          "referenceAllele": "A",
          "start": 42,
          "startIntronDirection": "+",
          "startIntronOffset": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000638569.1:c.42+74A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491412.1:n.42+74A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000641399.1:n.239A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000206249.7:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206249.3:p.Asn304Thr",
        "hgvsWellDefined": "ENSP00000206249.3:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "A",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000338799.9:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342630.5:p.Asn304Thr",
        "hgvsWellDefined": "ENSP00000342630.5:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 116667,
          "referenceAllele": "A",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 116668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000406599.5:c.453-116668A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384064.1:n.453-116668A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 63552,
          "referenceAllele": "A",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 63551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000415488.1:c.115+63552A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401995.1:n.115+63552A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000427531.6:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394721.2:p.Asn131Thr",
        "hgvsWellDefined": "ENSP00000394721.2:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000440973.5:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405330.1:p.Asn304Thr",
        "hgvsWellDefined": "ENSP00000405330.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000443427.5:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387500.1:p.Asn304Thr",
        "hgvsWellDefined": "ENSP00000387500.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 63552,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 63551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000456483.3:c.*110+63552A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415934.3:n.*110+63552A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "A",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000482101.1:n.152A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072913319",
      "coordinates": [
        {
          "allele": "C",
          "end": 1145,
          "referenceAllele": "A",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_000125.3:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000116.2:p.Asn304Thr",
        "hgvsWellDefined": "NP_000116.2:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122740.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116212.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116212.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "A",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122741.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116213.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116213.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122742.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116214.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116214.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "A",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291230.1:c.917A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278159.1:p.Asn306Thr",
        "hgvsWellDefined": "NP_001278159.1:p.Asn306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1126,
          "referenceAllele": "A",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291241.1:c.908A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278170.1:p.Asn303Thr",
        "hgvsWellDefined": "NP_001278170.1:p.Asn303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715374.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715437.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_006715437.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "referenceAllele": "A",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715375.2:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715438.1:p.Asn131Thr",
        "hgvsWellDefined": "XP_006715438.1:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535543.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533845.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533845.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535544.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533846.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533846.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535545.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533847.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533847.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "A",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535546.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533848.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533848.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535547.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533849.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533849.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535548.1:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533850.1:p.Asn131Thr",
        "hgvsWellDefined": "XP_011533850.1:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535549.1:c.182A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533851.1:p.Asn61Thr",
        "hgvsWellDefined": "XP_011533851.1:p.Asn61Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001328100.1:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315029.1:p.Asn131Thr",
        "hgvsWellDefined": "NP_001315029.1:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715374.3:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715437.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_006715437.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "A",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715375.3:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715438.1:p.Asn131Thr",
        "hgvsWellDefined": "XP_006715438.1:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3106,
          "referenceAllele": "A",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535543.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533845.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533845.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535544.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533846.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533846.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535545.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533847.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533847.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535547.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533849.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_011533849.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "referenceAllele": "A",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535549.2:c.182A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533851.1:p.Asn61Thr",
        "hgvsWellDefined": "XP_011533851.1:p.Asn61Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3728,
          "referenceAllele": "A",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010376.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865865.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865865.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3787,
          "referenceAllele": "A",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010377.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865866.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865866.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "A",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010378.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865867.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865867.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010379.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865868.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865868.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3597,
          "referenceAllele": "A",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010380.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865869.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865869.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "A",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010381.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865870.1:p.Asn304Thr",
        "hgvsWellDefined": "XP_016865870.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "A",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010382.2:c.254A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865871.1:p.Asn85Thr",
        "hgvsWellDefined": "XP_016865871.1:p.Asn85Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "A",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010383.1:c.122A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865872.1:p.Asn41Thr",
        "hgvsWellDefined": "XP_016865872.1:p.Asn41Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XR_001743223.2:n.1281A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XR_002956266.1:n.1281A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072913319",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_000125.4:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000116.2:p.Asn304Thr",
        "hgvsWellDefined": "NP_000116.2:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674713",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206249.8:c.911A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000125.4:c.911A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206249.3:p.Asn304Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000116.2:p.Asn304Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "A",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001328100.2:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315029.1:p.Asn131Thr",
        "hgvsWellDefined": "NP_001315029.1:p.Asn131Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122740.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116212.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116212.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122741.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116213.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116213.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122742.2:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116214.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001116214.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291230.2:c.917A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278159.1:p.Asn306Thr",
        "hgvsWellDefined": "NP_001278159.1:p.Asn306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291241.2:c.908A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278170.1:p.Asn303Thr",
        "hgvsWellDefined": "NP_001278170.1:p.Asn303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385568.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372497.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001372497.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385569.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372498.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001372498.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385570.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372499.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001372499.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385571.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372500.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001372500.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385572.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372501.1:p.Asn304Thr",
        "hgvsWellDefined": "NP_001372501.1:p.Asn304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723893"
    }
  ],
  "type": "nucleotide"
}