{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1673102062",
  "communityStandardTitle": [
    "NM_000125.4(ESR1):c.1003A= (p.Arg335=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1265916499",
        "rs": 1265916499
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 151944415,
          "referenceAllele": "A",
          "start": 151944414
        }
      ],
      "hgvs": [
        "NC_000006.12:g.151944415A=",
        "CM000668.2:g.151944415A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152265550,
          "referenceAllele": "A",
          "start": 152265549
        }
      ],
      "hgvs": [
        "NC_000006.11:g.152265550A=",
        "CM000668.1:g.152265550A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 152307243,
          "referenceAllele": "A",
          "start": 152307242
        }
      ],
      "hgvs": [
        "NC_000006.10:g.152307243A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258920,
          "referenceAllele": "A",
          "start": 258919
        }
      ],
      "hgvs": [
        "NG_008493.1:g.258920A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292725,
          "referenceAllele": "A",
          "start": 292724
        }
      ],
      "hgvs": [
        "NG_008493.2:g.292725A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616107"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000206249.8:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206249.3:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206249.8:c.1003A="
          },
          "RefSeq": {
            "hgvs": "NM_000125.4:c.1003A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206249.3:p.Arg335="
          },
          "RefSeq": {
            "hgvs": "NP_000116.2:p.Arg335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "endIntronDirection": "+",
          "endIntronOffset": 166,
          "referenceAllele": "A",
          "start": 42,
          "startIntronDirection": "+",
          "startIntronOffset": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000638569.1:c.42+166A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491412.1:n.42+166A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000641399.1:n.331A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "referenceAllele": "A",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000206249.7:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206249.3:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "A",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000338799.9:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342630.5:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 116575,
          "referenceAllele": "A",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 116576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000406599.5:c.453-116576A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384064.1:n.453-116576A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 63644,
          "referenceAllele": "A",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 63643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000415488.1:c.115+63644A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401995.1:n.115+63644A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000427531.6:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394721.2:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000440973.5:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405330.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000443427.5:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387500.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 63644,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 63643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000456483.3:c.*110+63644A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415934.3:n.*110+63644A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "A",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "ENST00000482101.1:n.244A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072751976",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "A",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_000125.3:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000116.2:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122740.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116212.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "referenceAllele": "A",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122741.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116213.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122742.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116214.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "A",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291230.1:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278159.1:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291241.1:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278170.1:p.Arg334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715374.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715437.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715375.2:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715438.1:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "A",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535543.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533845.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535544.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533846.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "A",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535545.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533847.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535546.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533848.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535547.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533849.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535548.1:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533850.1:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535549.1:c.274A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533851.1:p.Arg92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001328100.1:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001315029.1:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715374.3:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715437.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1370,
          "referenceAllele": "A",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_006715375.3:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715438.1:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3198,
          "referenceAllele": "A",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535543.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533845.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535544.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533846.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535545.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533847.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535547.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533849.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_011535549.2:c.274A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533851.1:p.Arg92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3820,
          "referenceAllele": "A",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010376.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865865.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "A",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010377.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865866.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "A",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010378.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865867.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "referenceAllele": "A",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010379.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865868.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3689,
          "referenceAllele": "A",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010380.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865869.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010381.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865870.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010382.2:c.346A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865871.1:p.Arg116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XM_017010383.1:c.214A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865872.1:p.Arg72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XR_001743223.2:n.1373A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "XR_002956266.1:n.1373A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072751976",
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_000125.4:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000116.2:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674713",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206249.8:c.1003A="
          },
          "RefSeq": {
            "hgvs": "NM_000125.4:c.1003A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206249.3:p.Arg335="
          },
          "RefSeq": {
            "hgvs": "NP_000116.2:p.Arg335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001328100.2:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001315029.1:p.Arg162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122740.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116212.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122741.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116213.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001122742.2:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116214.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "A",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291230.2:c.1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278159.1:p.Arg337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001291241.2:c.1000A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278170.1:p.Arg334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385568.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372497.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385569.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372498.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385570.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372499.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385571.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372500.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003467",
      "geneNCBI_id": 2099,
      "geneSymbol": "ESR1",
      "hgvs": [
        "NM_001385572.1:c.1003A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001372501.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723893"
    }
  ],
  "type": "nucleotide"
}