{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340664",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22301[alleleid]",
        "alleleId": 22301,
        "preferredName": "NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7262",
        "RCV": [
          "RCV000007684",
          "RCV000730982",
          "RCV004547463"
        ],
        "variationId": 7262
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55362420C>A?assembly=hg19",
        "id": "chr18:g.55362420C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57695188C>A?assembly=hg38",
        "id": "chr18:g.57695188C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033609",
        "rs": 111033609
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-55362420-C-A?dataset=gnomad_r2_1",
        "id": "18-55362420-C-A",
        "variant": "18:55362420 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57695188-C-A?dataset=gnomad_r3",
        "id": "18-57695188-C-A",
        "variant": "18:57695188 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57695188-C-A?dataset=gnomad_r4",
        "id": "18-57695188-C-A",
        "variant": "18:57695188 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57695188,
          "referenceAllele": "C",
          "start": 57695187
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57695188C>A",
        "CM000680.2:g.57695188C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55362420,
          "referenceAllele": "C",
          "start": 55362419
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55362420C>A",
        "CM000680.1:g.55362420C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53513418,
          "referenceAllele": "C",
          "start": 53513417
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53513418C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112908,
          "referenceAllele": "G",
          "start": 112907
        }
      ],
      "hgvs": [
        "NG_007148.2:g.112908G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113635,
          "referenceAllele": "G",
          "start": 113634
        }
      ],
      "hgvs": [
        "NG_007148.3:g.113635G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:p.Gly308Val",
        "hgvsWellDefined": "ENSP00000494712.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:p.Gly308Val",
        "hgvsWellDefined": "ENSP00000497863.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648467.1:c.756G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:p.Gly308Val",
        "hgvsWellDefined": "ENSP00000497896.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.923G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.923G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Gly308Val"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Gly308Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:p.Gly308Val",
        "hgvsWellDefined": "ENSP00000283684.4:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:p.Gly308Val",
        "hgvsWellDefined": "ENSP00000445359.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340665",
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:p.Gly308Val",
        "hgvsWellDefined": "NP_005594.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Gly308Val",
        "hgvsWellDefined": "XP_006722544.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:p.Gly308Val",
        "hgvsWellDefined": "XP_011524322.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:p.Gly308Val",
        "hgvsWellDefined": "XP_011524323.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:p.Gly308Val",
        "hgvsWellDefined": "XP_011524324.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Gly270Val",
        "hgvsWellDefined": "XP_011524325.1:p.Gly270Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526024.1:c.203G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524326.1:p.Gly68Val",
        "hgvsWellDefined": "XP_011524326.1:p.Gly68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "endIntronDirection": "-",
          "endIntronOffset": 756,
          "referenceAllele": "C",
          "start": 31,
          "startIntronDirection": "-",
          "startIntronOffset": 757
        }
      ],
      "hgvs": [
        "XR_935525.1:n.32-757C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "endIntronDirection": "-",
          "endIntronOffset": 756,
          "referenceAllele": "C",
          "start": 31,
          "startIntronDirection": "-",
          "startIntronOffset": 757
        }
      ],
      "hgvs": [
        "XR_935526.1:n.32-757C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865561",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:p.Gly308Val",
        "hgvsWellDefined": "NP_005594.2:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Gly308Val",
        "hgvsWellDefined": "XP_006722544.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.809G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Gly270Val",
        "hgvsWellDefined": "XP_011524325.1:p.Gly270Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509424",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:p.Gly308Val",
        "hgvsWellDefined": "NP_001361314.1:p.Gly308Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.923G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.923G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Gly308Val"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Gly308Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:p.Gly258Val",
        "hgvsWellDefined": "NP_001361315.1:p.Gly258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    }
  ],
  "type": "nucleotide"
}