{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1950958",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3569618",
        "active": true,
        "id": "COSM3569618"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3569619",
        "active": true,
        "id": "COSM3569619"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=961830[alleleid]",
        "alleleId": 961830,
        "preferredName": "NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973516",
        "RCV": [
          "RCV001250138",
          "RCV002568703",
          "RCV003462827",
          "RCV003984855"
        ],
        "variationId": 973516
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169781241-G-A",
        "id": "2-169781241-G-A",
        "variant": "2:169781241 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169781241G>A?assembly=hg19",
        "id": "chr2:g.169781241G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168924731G>A?assembly=hg38",
        "id": "chr2:g.168924731G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766285158",
        "rs": 766285158
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169781241-G-A?dataset=gnomad_r2_1",
        "id": "2-169781241-G-A",
        "variant": "2:169781241 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168924731-G-A?dataset=gnomad_r4",
        "id": "2-168924731-G-A",
        "variant": "2:168924731 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 168924731,
          "referenceAllele": "G",
          "start": 168924730
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168924731G>A",
        "CM000664.2:g.168924731G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169781241,
          "referenceAllele": "G",
          "start": 169781240
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169781241G>A",
        "CM000664.1:g.169781241G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169489487,
          "referenceAllele": "G",
          "start": 169489486
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169489487G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111593,
          "referenceAllele": "C",
          "start": 111592
        }
      ],
      "hgvs": [
        "NG_007374.1:g.111593C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111666,
          "referenceAllele": "C",
          "start": 111665
        }
      ],
      "hgvs": [
        "NG_007374.2:g.111666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000648875.1:c.152C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "referenceAllele": "C",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.2068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Arg690Trp",
        "hgvsWellDefined": "ENSP00000497165.1:p.Arg690Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3818,
          "referenceAllele": "C",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.3691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Arg1231Trp",
        "hgvsWellDefined": "ENSP00000497931.1:p.Arg1231Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Arg1231Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Arg1231Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3816,
          "referenceAllele": "C",
          "start": 3815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.3691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Arg1231Trp",
        "hgvsWellDefined": "ENSP00000263817.6:p.Arg1231Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.2308C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.2308C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139704690",
      "coordinates": [
        {
          "allele": "T",
          "end": 3817,
          "referenceAllele": "C",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.3691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Arg1231Trp",
        "hgvsWellDefined": "NP_003733.2:p.Arg1231Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3868,
          "referenceAllele": "C",
          "start": 3867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Arg1245Trp",
        "hgvsWellDefined": "XP_006712880.1:p.Arg1245Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_011510379.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_011510380.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3850,
          "referenceAllele": "C",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_011510381.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.2017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Arg673Trp",
        "hgvsWellDefined": "XP_011510383.1:p.Arg673Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139704690",
      "coordinates": [
        {
          "allele": "T",
          "end": 3818,
          "referenceAllele": "C",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.3691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Arg1231Trp",
        "hgvsWellDefined": "NP_003733.2:p.Arg1231Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Arg1231Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Arg1231Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3929,
          "referenceAllele": "C",
          "start": 3928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Arg1245Trp",
        "hgvsWellDefined": "XP_006712880.1:p.Arg1245Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "C",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_011510379.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "C",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_011510380.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.2017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Arg673Trp",
        "hgvsWellDefined": "XP_011510383.1:p.Arg673Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3991,
          "referenceAllele": "C",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Arg1265Trp",
        "hgvsWellDefined": "XP_016860654.1:p.Arg1265Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.3022C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Arg1008Trp",
        "hgvsWellDefined": "XP_016860655.1:p.Arg1008Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2673,
          "referenceAllele": "C",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Arg826Trp",
        "hgvsWellDefined": "XP_016860656.1:p.Arg826Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}