{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951388",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1528839",
        "active": true,
        "id": "COSM1528839"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4305577",
        "active": true,
        "id": "COSM4305577"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585250[alleleid]",
        "alleleId": 585250,
        "preferredName": "NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594187",
        "RCV": [
          "RCV000729414",
          "RCV001825452"
        ],
        "variationId": 594187
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169824975-C-T",
        "id": "2-169824975-C-T",
        "variant": "2:169824975 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169824975C>T?assembly=hg19",
        "id": "chr2:g.169824975C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168968465C>T?assembly=hg38",
        "id": "chr2:g.168968465C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776223452",
        "rs": 776223452
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169824975-C-T?dataset=gnomad_r2_1",
        "id": "2-169824975-C-T",
        "variant": "2:169824975 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168968465-C-T?dataset=gnomad_r3",
        "id": "2-168968465-C-T",
        "variant": "2:168968465 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168968465-C-T?dataset=gnomad_r4",
        "id": "2-168968465-C-T",
        "variant": "2:168968465 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 168968465,
          "referenceAllele": "C",
          "start": 168968464
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168968465C>T",
        "CM000664.2:g.168968465C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169824975,
          "referenceAllele": "C",
          "start": 169824974
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169824975C>T",
        "CM000664.1:g.169824975C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169533221,
          "referenceAllele": "C",
          "start": 169533220
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169533221C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67859,
          "referenceAllele": "G",
          "start": 67858
        }
      ],
      "hgvs": [
        "NG_007374.1:g.67859G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67932,
          "referenceAllele": "G",
          "start": 67931
        }
      ],
      "hgvs": [
        "NG_007374.2:g.67932G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Ala118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2164,
          "referenceAllele": "G",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.2037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Ala679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2037G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2037G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Ala679="
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Ala679="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.2037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Ala679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.726G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.726G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829471136",
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.2037G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Ala679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.2079G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Ala693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "referenceAllele": "G",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.363G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Ala121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829471136",
      "coordinates": [
        {
          "allele": "A",
          "end": 2164,
          "referenceAllele": "G",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.2037G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Ala679="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2037G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2037G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Ala679="
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Ala679="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2275,
          "referenceAllele": "G",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.2079G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Ala693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2338,
          "referenceAllele": "G",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.363G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Ala121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.2139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Ala713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.1368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Ala274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}