{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA233559655",
  "communityStandardTitle": [
    "NM_006446.5(SLCO1B1):c.245T>C (p.Val82Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21327529T>C?assembly=hg19",
        "id": "chr12:g.21327529T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21174595T>C?assembly=hg38",
        "id": "chr12:g.21174595T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/56061388",
        "rs": 56061388
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21174595-T-C?dataset=gnomad_r4",
        "id": "12-21174595-T-C",
        "variant": "12:21174595 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21174595,
          "referenceAllele": "T",
          "start": 21174594
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21174595T>C",
        "CM000674.2:g.21174595T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21327529,
          "referenceAllele": "T",
          "start": 21327528
        }
      ],
      "hgvs": [
        "NC_000012.11:g.21327529T>C",
        "CM000674.1:g.21327529T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21218796,
          "referenceAllele": "T",
          "start": 21218795
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21218796T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48402,
          "referenceAllele": "T",
          "start": 48401
        }
      ],
      "hgvs": [
        "NG_011745.1:g.48402T>C",
        "LRG_1022:g.48402T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001944"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "T",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010959",
      "geneNCBI_id": 10599,
      "geneSymbol": "SLCO1B1",
      "hgvs": [
        "ENST00000256958.3:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256958.2:p.Val82Ala",
        "hgvsWellDefined": "ENSP00000256958.2:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256958.3:c.245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006446.5:c.245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256958.2:p.Val82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006437.3:p.Val82Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010959",
      "geneNCBI_id": 10599,
      "geneSymbol": "SLCO1B1",
      "hgvs": [
        "ENST00000256958.2:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256958.2:p.Val82Ala",
        "hgvsWellDefined": "ENSP00000256958.2:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "endIntronDirection": "-",
          "endIntronOffset": 2180,
          "referenceAllele": "T",
          "start": 425,
          "startIntronDirection": "-",
          "startIntronOffset": 2181
        }
      ],
      "hgvs": [
        "ENST00000543498.5:c.426-2181T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079278169",
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "T",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010959",
      "geneNCBI_id": 10599,
      "geneSymbol": "SLCO1B1",
      "hgvs": [
        "NM_006446.4:c.245T>C",
        "LRG_1022t1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006437.3:p.Val82Ala",
        "hgvsWellDefined": "NP_006437.3:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079278169",
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "T",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010959",
      "geneNCBI_id": 10599,
      "geneSymbol": "SLCO1B1",
      "hgvs": [
        "NM_006446.5:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006437.3:p.Val82Ala",
        "hgvsWellDefined": "NP_006437.3:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256958.3:c.245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006446.5:c.245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256958.2:p.Val82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006437.3:p.Val82Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}