{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951863",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1493789[alleleid]",
        "alleleId": 1493789,
        "preferredName": "NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1433215",
        "RCV": [
          "RCV001944310"
        ],
        "variationId": 1433215
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169851987-G-T",
        "id": "2-169851987-G-T",
        "variant": "2:169851987 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169851987G>T?assembly=hg19",
        "id": "chr2:g.169851987G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168995477G>T?assembly=hg38",
        "id": "chr2:g.168995477G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777119489",
        "rs": 777119489
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169851987-G-T?dataset=gnomad_r2_1",
        "id": "2-169851987-G-T",
        "variant": "2:169851987 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168995477-G-T?dataset=gnomad_r4",
        "id": "2-168995477-G-T",
        "variant": "2:168995477 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 168995477,
          "referenceAllele": "G",
          "start": 168995476
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168995477G>T",
        "CM000664.2:g.168995477G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169851987,
          "referenceAllele": "G",
          "start": 169851986
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169851987G>T",
        "CM000664.1:g.169851987G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169560233,
          "referenceAllele": "G",
          "start": 169560232
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169560233G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40847,
          "referenceAllele": "C",
          "start": 40846
        }
      ],
      "hgvs": [
        "NG_007374.1:g.40847C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40920,
          "referenceAllele": "C",
          "start": 40919
        }
      ],
      "hgvs": [
        "NG_007374.2:g.40920C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.483C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Cys161Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.483C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.483C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Cys161Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Cys161Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.483C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Cys161Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.483C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Cys161Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Cys175Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Cys195Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Cys195_Arg936delinsPheTrpValIleAlaAlaAlaArgGlnIleGlnLysMetArgLysPheTyrPheArgArgIleMetArgMetGluIleGlyTrpPheAspCysAsnSerValGlyGluLeuAsnThrArgPheSerAspAspIleAsnLysIleAsnAspAlaIleAlaAspGlnMetAlaLeuPheIleGlnArgMetThrSerThrIleCysGlyPheLeuLeuGlyPhePheArgGlyTrpLysLeuThrLeuValIleIleSerValSerProLeuIleGlyIleGlyAlaAlaThrIleGlyLeuSerValSerLysPheThrAspTyrGluLeuLysAlaTyrAlaLysAlaGlyValValAlaAspGluValIleSerSerMetArgThrValAlaAlaPheGlyGlyGluLysArgGluValGluArgTyrGluLysAsnLeuValPheAlaGlnArgTrpGlyIleArgLysGlyIleValMetGlyPhePheThrGlyPheValTrpCysLeuIlePheLeuCysTyrAlaLeuAlaPheTrpTyrGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.483C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Cys161Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.483C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.483C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Cys161Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Cys161Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Cys175Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Cys195Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Cys195_Arg936delinsPheTrpValIleAlaAlaAlaArgGlnIleGlnLysMetArgLysPheTyrPheArgArgIleMetArgMetGluIleGlyTrpPheAspCysAsnSerValGlyGluLeuAsnThrArgPheSerAspAspIleAsnLysIleAsnAspAlaIleAlaAspGlnMetAlaLeuPheIleGlnArgMetThrSerThrIleCysGlyPheLeuLeuGlyPhePheArgGlyTrpLysLeuThrLeuValIleIleSerValSerProLeuIleGlyIleGlyAlaAlaThrIleGlyLeuSerValSerLysPheThrAspTyrGluLeuLysAlaTyrAlaLysAlaGlyValValAlaAspGluValIleSerSerMetArgThrValAlaAlaPheGlyGlyGluLysArgGluValGluArgTyrGluLysAsnLeuValPheAlaGlnArgTrpGlyIleArgLysGlyIleValMetGlyPhePheThrGlyPheValTrpCysLeuIlePheLeuCysTyrAlaLeuAlaPheTrpTyrGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.585C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Cys195Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    }
  ],
  "type": "nucleotide"
}