{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1950997",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493332[alleleid]",
        "alleleId": 493332,
        "preferredName": "NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501908",
        "RCV": [
          "RCV000593746",
          "RCV000923870",
          "RCV001133699"
        ],
        "variationId": 501908
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169783760-T-G",
        "id": "2-169783760-T-G",
        "variant": "2:169783760 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169783760T>G?assembly=hg19",
        "id": "chr2:g.169783760T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168927250T>G?assembly=hg38",
        "id": "chr2:g.168927250T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200709879",
        "rs": 200709879
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169783760-T-G?dataset=gnomad_r2_1",
        "id": "2-169783760-T-G",
        "variant": "2:169783760 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168927250-T-G?dataset=gnomad_r3",
        "id": "2-168927250-T-G",
        "variant": "2:168927250 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168927250-T-G?dataset=gnomad_r4",
        "id": "2-168927250-T-G",
        "variant": "2:168927250 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 168927250,
          "referenceAllele": "T",
          "start": 168927249
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168927250T>G",
        "CM000664.2:g.168927250T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 169783760,
          "referenceAllele": "T",
          "start": 169783759
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169783760T>G",
        "CM000664.1:g.169783760T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 169492006,
          "referenceAllele": "T",
          "start": 169492005
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169492006T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109074,
          "referenceAllele": "A",
          "start": 109073
        }
      ],
      "hgvs": [
        "NG_007374.1:g.109074A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109147,
          "referenceAllele": "A",
          "start": 109146
        }
      ],
      "hgvs": [
        "NG_007374.2:g.109147A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "referenceAllele": "A",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.1901A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Lys634Thr",
        "hgvsWellDefined": "ENSP00000497165.1:p.Lys634Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3651,
          "referenceAllele": "A",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.3524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Lys1175Thr",
        "hgvsWellDefined": "ENSP00000497931.1:p.Lys1175Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3524A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3524A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Lys1175Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Lys1175Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3649,
          "referenceAllele": "A",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.3524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Lys1175Thr",
        "hgvsWellDefined": "ENSP00000263817.6:p.Lys1175Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.2141A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.2141A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811474",
      "coordinates": [
        {
          "allele": "C",
          "end": 3650,
          "referenceAllele": "A",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.3524A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Lys1175Thr",
        "hgvsWellDefined": "NP_003733.2:p.Lys1175Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3701,
          "referenceAllele": "A",
          "start": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.3566A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Lys1189Thr",
        "hgvsWellDefined": "XP_006712880.1:p.Lys1189Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3761,
          "referenceAllele": "A",
          "start": 3760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_011510379.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3761,
          "referenceAllele": "A",
          "start": 3760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_011510380.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3683,
          "referenceAllele": "A",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_011510381.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.1850A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Lys617Thr",
        "hgvsWellDefined": "XP_011510383.1:p.Lys617Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811474",
      "coordinates": [
        {
          "allele": "C",
          "end": 3651,
          "referenceAllele": "A",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.3524A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Lys1175Thr",
        "hgvsWellDefined": "NP_003733.2:p.Lys1175Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3524A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3524A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Lys1175Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Lys1175Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3762,
          "referenceAllele": "A",
          "start": 3761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.3566A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Lys1189Thr",
        "hgvsWellDefined": "XP_006712880.1:p.Lys1189Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3822,
          "referenceAllele": "A",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_011510379.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3822,
          "referenceAllele": "A",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_011510380.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.1850A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Lys617Thr",
        "hgvsWellDefined": "XP_011510383.1:p.Lys617Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3824,
          "referenceAllele": "A",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.3626A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Lys1209Thr",
        "hgvsWellDefined": "XP_016860654.1:p.Lys1209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2948,
          "referenceAllele": "A",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.2855A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Lys952Thr",
        "hgvsWellDefined": "XP_016860655.1:p.Lys952Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2506,
          "referenceAllele": "A",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.2309A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Lys770Thr",
        "hgvsWellDefined": "XP_016860656.1:p.Lys770Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}