{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8974920",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=879514[alleleid]",
        "alleleId": 879514,
        "preferredName": "NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/891236",
        "RCV": [
          "RCV001126392",
          "RCV003736992"
        ],
        "variationId": 891236
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-55373794-G-A",
        "id": "18-55373794-G-A",
        "variant": "18:55373794 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55373794G>A?assembly=hg19",
        "id": "chr18:g.55373794G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57706562G>A?assembly=hg38",
        "id": "chr18:g.57706562G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201150730",
        "rs": 201150730
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-55373794-G-A?dataset=gnomad_r2_1",
        "id": "18-55373794-G-A",
        "variant": "18:55373794 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57706562-G-A?dataset=gnomad_r3",
        "id": "18-57706562-G-A",
        "variant": "18:57706562 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57706562-G-A?dataset=gnomad_r4",
        "id": "18-57706562-G-A",
        "variant": "18:57706562 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57706562,
          "referenceAllele": "G",
          "start": 57706561
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57706562G>A",
        "CM000680.2:g.57706562G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55373794,
          "referenceAllele": "G",
          "start": 55373793
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55373794G>A",
        "CM000680.1:g.55373794G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53524792,
          "referenceAllele": "G",
          "start": 53524791
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53524792G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101534,
          "referenceAllele": "C",
          "start": 101533
        }
      ],
      "hgvs": [
        "NG_007148.2:g.101534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102261,
          "referenceAllele": "C",
          "start": 102260
        }
      ],
      "hgvs": [
        "NG_007148.3:g.102261C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648467.1:c.154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Asn69="
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Asn69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101,
          "referenceAllele": "C",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000589147.5:n.101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 1893,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000591728.1:c.182-1894C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467767.1:n.182-1894C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 10526,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 10525
        }
      ],
      "hgvs": [
        "XR_935525.1:n.123+10526G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 100,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 101
        }
      ],
      "hgvs": [
        "XR_935526.1:n.124-101G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829608000",
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509318",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:p.Asn69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Asn69="
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Asn69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 1893,
          "referenceAllele": "C",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.130-1894C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:n.130-1894C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    }
  ],
  "type": "nucleotide"
}