{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951222",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=794854[alleleid]",
        "alleleId": 794854,
        "preferredName": "NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/808880",
        "RCV": [
          "RCV000997300",
          "RCV003485672"
        ],
        "variationId": 808880
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169792937-C-T",
        "id": "2-169792937-C-T",
        "variant": "2:169792937 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169792937C>T?assembly=hg19",
        "id": "chr2:g.169792937C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168936427C>T?assembly=hg38",
        "id": "chr2:g.168936427C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/559849564",
        "rs": 559849564
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169792937-C-T?dataset=gnomad_r2_1",
        "id": "2-169792937-C-T",
        "variant": "2:169792937 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168936427-C-T?dataset=gnomad_r3",
        "id": "2-168936427-C-T",
        "variant": "2:168936427 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168936427-C-T?dataset=gnomad_r4",
        "id": "2-168936427-C-T",
        "variant": "2:168936427 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 168936427,
          "referenceAllele": "C",
          "start": 168936426
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168936427C>T",
        "CM000664.2:g.168936427C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169792937,
          "referenceAllele": "C",
          "start": 169792936
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169792937C>T",
        "CM000664.1:g.169792937C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169501183,
          "referenceAllele": "C",
          "start": 169501182
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169501183C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99897,
          "referenceAllele": "G",
          "start": 99896
        }
      ],
      "hgvs": [
        "NG_007374.1:g.99897G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99970,
          "referenceAllele": "G",
          "start": 99969
        }
      ],
      "hgvs": [
        "NG_007374.2:g.99970G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Gly312Ser",
        "hgvsWellDefined": "ENSP00000497165.1:p.Gly312Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2744,
          "referenceAllele": "G",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Gly873Ser",
        "hgvsWellDefined": "ENSP00000497931.1:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2617G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2617G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Gly873Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Gly873Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Gly873Ser",
        "hgvsWellDefined": "ENSP00000263817.6:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.1306G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.1306G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994788",
      "coordinates": [
        {
          "allele": "A",
          "end": 2743,
          "referenceAllele": "G",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Gly873Ser",
        "hgvsWellDefined": "NP_003733.2:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2794,
          "referenceAllele": "G",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.2659G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Gly887Ser",
        "hgvsWellDefined": "XP_006712880.1:p.Gly887Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_011510379.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_011510380.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_011510381.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2851,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 2851,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.2713-74G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:n.2713-74G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Gly315Ser",
        "hgvsWellDefined": "XP_011510383.1:p.Gly315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994788",
      "coordinates": [
        {
          "allele": "A",
          "end": 2744,
          "referenceAllele": "G",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.2617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Gly873Ser",
        "hgvsWellDefined": "NP_003733.2:p.Gly873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.2617G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.2617G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Gly873Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Gly873Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2855,
          "referenceAllele": "G",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.2659G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Gly887Ser",
        "hgvsWellDefined": "XP_006712880.1:p.Gly887Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2915,
          "referenceAllele": "G",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_011510379.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2915,
          "referenceAllele": "G",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_011510380.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 2911,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.2713-74G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:n.2713-74G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Gly315Ser",
        "hgvsWellDefined": "XP_011510383.1:p.Gly315Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2917,
          "referenceAllele": "G",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.2719G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Gly907Ser",
        "hgvsWellDefined": "XP_016860654.1:p.Gly907Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Gly650Ser",
        "hgvsWellDefined": "XP_016860655.1:p.Gly650Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.1402G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Gly468Ser",
        "hgvsWellDefined": "XP_016860656.1:p.Gly468Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}