{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6475137",
  "communityStandardTitle": [
    "NM_019844.4(SLCO1B3):c.342A>G (p.Pro114=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3194444[alleleid]",
        "alleleId": 3194444,
        "preferredName": "NM_019844.4(SLCO1B3):c.342A>G (p.Pro114=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3030685",
        "RCV": [
          "RCV003893841"
        ],
        "variationId": 3030685
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-21011488-A-G",
        "id": "12-21011488-A-G",
        "variant": "12:21011488 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21011488A>G?assembly=hg19",
        "id": "chr12:g.21011488A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.20858554A>G?assembly=hg38",
        "id": "chr12:g.20858554A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770452047",
        "rs": 770452047
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21011488-A-G?dataset=gnomad_r2_1",
        "id": "12-21011488-A-G",
        "variant": "12:21011488 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-20858554-A-G?dataset=gnomad_r3",
        "id": "12-20858554-A-G",
        "variant": "12:20858554 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-20858554-A-G?dataset=gnomad_r4",
        "id": "12-20858554-A-G",
        "variant": "12:20858554 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 20858554,
          "referenceAllele": "A",
          "start": 20858553
        }
      ],
      "hgvs": [
        "NC_000012.12:g.20858554A>G",
        "CM000674.2:g.20858554A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 21011488,
          "referenceAllele": "A",
          "start": 21011487
        }
      ],
      "hgvs": [
        "NC_000012.11:g.21011488A>G",
        "CM000674.1:g.21011488A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 20902755,
          "referenceAllele": "A",
          "start": 20902754
        }
      ],
      "hgvs": [
        "NC_000012.10:g.20902755A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52851,
          "referenceAllele": "A",
          "start": 52850
        }
      ],
      "hgvs": [
        "NG_032071.1:g.52851A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "ENST00000381545.8:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370956.4:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381545.8:c.342A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019844.4:c.342A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370956.4:p.Pro114="
          },
          "RefSeq": {
            "hgvs": "NP_062818.1:p.Pro114="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "A",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "ENST00000261196.6:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261196.2:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "A",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054403",
      "geneNCBI_id": 115072896,
      "geneSymbol": "SLCO1B3-SLCO1B7",
      "hgvs": [
        "ENST00000381541.7:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370952.3:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "ENST00000381545.7:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370956.3:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "A",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054403",
      "geneNCBI_id": 115072896,
      "geneSymbol": "SLCO1B3-SLCO1B7",
      "hgvs": [
        "ENST00000540229.1:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441269.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "ENST00000540853.5:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442000.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "referenceAllele": "A",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "ENST00000545880.1:n.194A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829905387",
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "NM_019844.3:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_062818.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827472170",
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "NM_001349920.1:c.258A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336849.1:p.Pro86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827472170",
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "NM_001349920.2:c.258A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336849.1:p.Pro86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828455778",
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "A",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054403",
      "geneNCBI_id": 115072896,
      "geneSymbol": "SLCO1B3-SLCO1B7",
      "hgvs": [
        "NM_001371097.1:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358026.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829905387",
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010961",
      "geneNCBI_id": 28234,
      "geneSymbol": "SLCO1B3",
      "hgvs": [
        "NM_019844.4:c.342A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_062818.1:p.Pro114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381545.8:c.342A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019844.4:c.342A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370956.4:p.Pro114="
          },
          "RefSeq": {
            "hgvs": "NP_062818.1:p.Pro114="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}