{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951196",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=494028[alleleid]",
        "alleleId": 494028,
        "preferredName": "NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502605",
        "RCV": [
          "RCV000591659",
          "RCV001130865"
        ],
        "variationId": 502605
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169792786-G-A",
        "id": "2-169792786-G-A",
        "variant": "2:169792786 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169792786G>A?assembly=hg19",
        "id": "chr2:g.169792786G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168936276G>A?assembly=hg38",
        "id": "chr2:g.168936276G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199514789",
        "rs": 199514789
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169792786-G-A?dataset=gnomad_r2_1",
        "id": "2-169792786-G-A",
        "variant": "2:169792786 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168936276-G-A?dataset=gnomad_r3",
        "id": "2-168936276-G-A",
        "variant": "2:168936276 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168936276-G-A?dataset=gnomad_r4",
        "id": "2-168936276-G-A",
        "variant": "2:168936276 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 168936276,
          "referenceAllele": "G",
          "start": 168936275
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168936276G>A",
        "CM000664.2:g.168936276G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169792786,
          "referenceAllele": "G",
          "start": 169792785
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169792786G>A",
        "CM000664.1:g.169792786G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169501032,
          "referenceAllele": "G",
          "start": 169501031
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169501032G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100048,
          "referenceAllele": "C",
          "start": 100047
        }
      ],
      "hgvs": [
        "NG_007374.1:g.100048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100121,
          "referenceAllele": "C",
          "start": 100120
        }
      ],
      "hgvs": [
        "NG_007374.2:g.100121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.1085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Thr362Ile",
        "hgvsWellDefined": "ENSP00000497165.1:p.Thr362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2895,
          "referenceAllele": "C",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.2768C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Thr923Ile",
        "hgvsWellDefined": "ENSP00000497931.1:p.Thr923Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2768C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2768C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Thr923Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Thr923Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2893,
          "referenceAllele": "C",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.2768C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Thr923Ile",
        "hgvsWellDefined": "ENSP00000263817.6:p.Thr923Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.1457C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.1457C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811450",
      "coordinates": [
        {
          "allele": "T",
          "end": 2894,
          "referenceAllele": "C",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.2768C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Thr923Ile",
        "hgvsWellDefined": "NP_003733.2:p.Thr923Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2945,
          "referenceAllele": "C",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.2810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Thr937Ile",
        "hgvsWellDefined": "XP_006712880.1:p.Thr937Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_011510379.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_011510380.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2927,
          "referenceAllele": "C",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_011510381.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Asp930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Thr365Ile",
        "hgvsWellDefined": "XP_011510383.1:p.Thr365Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811450",
      "coordinates": [
        {
          "allele": "T",
          "end": 2895,
          "referenceAllele": "C",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.2768C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Thr923Ile",
        "hgvsWellDefined": "NP_003733.2:p.Thr923Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2768C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2768C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Thr923Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Thr923Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.2810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Thr937Ile",
        "hgvsWellDefined": "XP_006712880.1:p.Thr937Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_011510379.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_011510380.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2989,
          "referenceAllele": "C",
          "start": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Asp930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Thr365Ile",
        "hgvsWellDefined": "XP_011510383.1:p.Thr365Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.2870C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Thr957Ile",
        "hgvsWellDefined": "XP_016860654.1:p.Thr957Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "referenceAllele": "C",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.2099C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Thr700Ile",
        "hgvsWellDefined": "XP_016860655.1:p.Thr700Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Thr518Ile",
        "hgvsWellDefined": "XP_016860656.1:p.Thr518Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}