{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274098",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4048033",
        "active": true,
        "id": "COSM4048033"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186881[alleleid]",
        "alleleId": 186881,
        "preferredName": "NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188900",
        "RCV": [
          "RCV000169260",
          "RCV002254281",
          "RCV002453567"
        ],
        "variationId": 188900
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52515217C>T?assembly=hg19",
        "id": "chr13:g.52515217C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51941081C>T?assembly=hg38",
        "id": "chr13:g.51941081C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204547",
        "rs": 786204547
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52515217-C-T?dataset=gnomad_r2_1",
        "id": "13-52515217-C-T",
        "variant": "13:52515217 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51941081-C-T?dataset=gnomad_r3",
        "id": "13-51941081-C-T",
        "variant": "13:51941081 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51941081-C-T?dataset=gnomad_r4",
        "id": "13-51941081-C-T",
        "variant": "13:51941081 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51941081,
          "referenceAllele": "C",
          "start": 51941080
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51941081C>T",
        "CM000675.2:g.51941081C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52515217,
          "referenceAllele": "C",
          "start": 52515216
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52515217C>T",
        "CM000675.1:g.52515217C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51413218,
          "referenceAllele": "C",
          "start": 51413217
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51413218C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75414,
          "referenceAllele": "G",
          "start": 75413
        }
      ],
      "hgvs": [
        "NG_008806.1:g.75414G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3311,
          "referenceAllele": "G",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1206G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2300G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2935G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Gly979Ser",
        "hgvsWellDefined": "ENSP00000500964.2:p.Gly979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Gly1186Ser",
        "hgvsWellDefined": "ENSP00000242839.5:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3556G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3556G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1186Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1186Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3092,
          "referenceAllele": "G",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2935G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly979Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1075Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1075Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3557,
          "referenceAllele": "G",
          "start": 3556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Gly1102Ser",
        "hgvsWellDefined": "ENSP00000416738.3:p.Gly1102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3396,
          "referenceAllele": "G",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Gly1108Ser",
        "hgvsWellDefined": "ENSP00000501168.1:p.Gly1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3695,
          "referenceAllele": "G",
          "start": 3694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3695G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3919,
          "referenceAllele": "G",
          "start": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3919G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "referenceAllele": "G",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2491G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Gly831Ser",
        "hgvsWellDefined": "ENSP00000500964.1:p.Gly831Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Gly1186Ser",
        "hgvsWellDefined": "ENSP00000242839.4:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2937,
          "referenceAllele": "G",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2935G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly979Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3380,
          "referenceAllele": "G",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1075Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1075Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "G",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Gly756Ser",
        "hgvsWellDefined": "ENSP00000383221.3:p.Gly756Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3435,
          "referenceAllele": "G",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Gly1121Ser",
        "hgvsWellDefined": "ENSP00000393343.2:p.Gly1121Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3479,
          "referenceAllele": "G",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Gly1108Ser",
        "hgvsWellDefined": "ENSP00000416738.2:p.Gly1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1334G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3414,
          "referenceAllele": "G",
          "start": 3413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4300,
          "referenceAllele": "G",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2901,
          "referenceAllele": "G",
          "start": 2900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2901G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Gly1138Ser",
        "hgvsWellDefined": "ENSP00000489398.1:p.Gly1138Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091886",
      "coordinates": [
        {
          "allele": "A",
          "end": 3713,
          "referenceAllele": "G",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1186Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955099",
      "coordinates": [
        {
          "allele": "A",
          "end": 3092,
          "referenceAllele": "G",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2935G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly979Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318341",
      "coordinates": [
        {
          "allele": "A",
          "end": 3380,
          "referenceAllele": "G",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1075Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1075Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3618,
          "referenceAllele": "G",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_005266480.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3541,
          "referenceAllele": "G",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Gly1108Ser",
        "hgvsWellDefined": "XP_005266484.1:p.Gly1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3523,
          "referenceAllele": "G",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Gly1102Ser",
        "hgvsWellDefined": "XP_005266485.1:p.Gly1102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3690,
          "referenceAllele": "G",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1186Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3535,
          "referenceAllele": "G",
          "start": 3534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3520G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1174Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1174Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3289,
          "referenceAllele": "G",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3070G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Gly1024Ser",
        "hgvsWellDefined": "XP_005266489.1:p.Gly1024Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1372G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Gly458Ser",
        "hgvsWellDefined": "XP_006719901.1:p.Gly458Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Gly397Ser",
        "hgvsWellDefined": "XP_006719902.1:p.Gly397Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Gly1141Ser",
        "hgvsWellDefined": "XP_011533420.1:p.Gly1141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3592,
          "referenceAllele": "G",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3373G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Gly1125Ser",
        "hgvsWellDefined": "XP_011533421.1:p.Gly1125Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3361,
          "referenceAllele": "G",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3142G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Gly1048Ser",
        "hgvsWellDefined": "XP_011533422.1:p.Gly1048Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3262,
          "referenceAllele": "G",
          "start": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Gly1015Ser",
        "hgvsWellDefined": "XP_011533423.1:p.Gly1015Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Gly742Ser",
        "hgvsWellDefined": "XP_011533424.1:p.Gly742Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "referenceAllele": "G",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "referenceAllele": "G",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "referenceAllele": "G",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "referenceAllele": "G",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326874",
      "coordinates": [
        {
          "allele": "A",
          "end": 3479,
          "referenceAllele": "G",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1108Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329973",
      "coordinates": [
        {
          "allele": "A",
          "end": 3461,
          "referenceAllele": "G",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1102Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4239,
          "referenceAllele": "G",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1186Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6605,
          "referenceAllele": "G",
          "start": 6604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3520G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1174Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1174Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3867,
          "referenceAllele": "G",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4802,
          "referenceAllele": "G",
          "start": 4801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "G",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gly1154Ser",
        "hgvsWellDefined": "XP_016876116.1:p.Gly1154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091886",
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1186Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3556G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3556G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1186Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1186Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955099",
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2935G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly979Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329973",
      "coordinates": [
        {
          "allele": "A",
          "end": 3417,
          "referenceAllele": "G",
          "start": 3416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1102Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318341",
      "coordinates": [
        {
          "allele": "A",
          "end": 3336,
          "referenceAllele": "G",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1075Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1075Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326874",
      "coordinates": [
        {
          "allele": "A",
          "end": 3435,
          "referenceAllele": "G",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1108Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}