{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581115",
  "communityStandardTitle": [
    "NM_000702.4(ATP1A2):c.1244C= (p.Thr415=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918618",
        "rs": 121918618
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 160129007,
          "referenceAllele": "C",
          "start": 160129006
        }
      ],
      "hgvs": [
        "NC_000001.11:g.160129007C=",
        "CM000663.2:g.160129007C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 160098797,
          "referenceAllele": "C",
          "start": 160098796
        }
      ],
      "hgvs": [
        "NC_000001.10:g.160098797C=",
        "CM000663.1:g.160098797C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 158365421,
          "referenceAllele": "C",
          "start": 158365420
        }
      ],
      "hgvs": [
        "NC_000001.9:g.158365421C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18250,
          "referenceAllele": "C",
          "start": 18249
        }
      ],
      "hgvs": [
        "NG_008014.1:g.18250C=",
        "LRG_6:g.18250C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000774"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000361216.8:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354490.3:p.Thr415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361216.8:c.1244C="
          },
          "RefSeq": {
            "hgvs": "NM_000702.4:c.1244C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354490.3:p.Thr415="
          },
          "RefSeq": {
            "hgvs": "NP_000693.1:p.Thr415="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000361216.7:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354490.3:p.Thr415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000392233.7:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376066.3:p.Thr415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000447527.1:c.376C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "ENST00000472488.5:n.1347C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825240456",
      "coordinates": [
        {
          "allele": "C",
          "end": 1376,
          "referenceAllele": "C",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "NM_000702.3:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000693.1:p.Thr415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825240456",
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "NM_000702.4:c.1244C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000693.1:p.Thr415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361216.8:c.1244C="
          },
          "RefSeq": {
            "hgvs": "NM_000702.4:c.1244C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354490.3:p.Thr415="
          },
          "RefSeq": {
            "hgvs": "NP_000693.1:p.Thr415="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}