{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4734081",
  "communityStandardTitle": [
    "NM_000749.5(CHRNB3):c.1209G>C (p.Ser403=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4461506[alleleid]",
        "alleleId": 4461506,
        "preferredName": "NM_000749.5(CHRNB3):c.1209G>C (p.Ser403=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4347285",
        "RCV": [
          "RCV006015452",
          "RCV006015449",
          "RCV006015447",
          "RCV006015448",
          "RCV006015450",
          "RCV006015451",
          "RCV006015445",
          "RCV006015446"
        ],
        "variationId": 4347285
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-42587659-G-C",
        "id": "8-42587659-G-C",
        "variant": "8:42587659 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.42587659G>C?assembly=hg19",
        "id": "chr8:g.42587659G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.42732516G>C?assembly=hg38",
        "id": "chr8:g.42732516G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4953",
        "rs": 4953
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-42587659-G-C?dataset=gnomad_r2_1",
        "id": "8-42587659-G-C",
        "variant": "8:42587659 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-42732516-G-C?dataset=gnomad_r3",
        "id": "8-42732516-G-C",
        "variant": "8:42732516 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-42732516-G-C?dataset=gnomad_r4",
        "id": "8-42732516-G-C",
        "variant": "8:42732516 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 42732516,
          "referenceAllele": "G",
          "start": 42732515
        }
      ],
      "hgvs": [
        "NC_000008.11:g.42732516G>C",
        "CM000670.2:g.42732516G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 42587659,
          "referenceAllele": "G",
          "start": 42587658
        }
      ],
      "hgvs": [
        "NC_000008.10:g.42587659G>C",
        "CM000670.1:g.42587659G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 42706816,
          "referenceAllele": "G",
          "start": 42706815
        }
      ],
      "hgvs": [
        "NC_000008.9:g.42706816G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "ENST00000289957.3:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289957.2:p.Ser403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743996",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289957.3:c.1209G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000749.5:c.1209G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289957.2:p.Ser403="
          },
          "RefSeq": {
            "hgvs": "NP_000740.1:p.Ser403="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "ENST00000289957.2:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289957.2:p.Ser403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074687275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "NM_000749.3:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000740.1:p.Ser403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "XM_011544390.1:c.822G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542692.1:p.Ser274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074687275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "NM_000749.4:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000740.1:p.Ser403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249362670",
      "coordinates": [
        {
          "allele": "C",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "NM_001347717.1:c.987G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334646.1:p.Ser329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "XM_011544390.2:c.822G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542692.1:p.Ser274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074687275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "NM_000749.5:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000740.1:p.Ser403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289957.3:c.1209G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000749.5:c.1209G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289957.2:p.Ser403="
          },
          "RefSeq": {
            "hgvs": "NP_000740.1:p.Ser403="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249362670",
      "coordinates": [
        {
          "allele": "C",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001963",
      "geneNCBI_id": 1142,
      "geneSymbol": "CHRNB3",
      "hgvs": [
        "NM_001347717.2:c.987G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334646.1:p.Ser329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719057"
    }
  ],
  "type": "nucleotide"
}