{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119351",
  "communityStandardTitle": [
    "NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4987109"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23217[alleleid]",
        "alleleId": 23217,
        "preferredName": "NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8178",
        "RCV": [
          "RCV000008657",
          "RCV000119045",
          "RCV002247276",
          "RCV003421912"
        ],
        "variationId": 8178
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-15772212-C-T",
        "id": "1-15772212-C-T",
        "variant": "1:15772212 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.15772212C>T?assembly=hg19",
        "id": "chr1:g.15772212C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.15445717C>T?assembly=hg38",
        "id": "chr1:g.15445717C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909293",
        "rs": 121909293
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-15772212-C-T?dataset=gnomad_r2_1",
        "id": "1-15772212-C-T",
        "variant": "1:15772212 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-15445717-C-T?dataset=gnomad_r3",
        "id": "1-15445717-C-T",
        "variant": "1:15445717 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-15445717-C-T?dataset=gnomad_r4",
        "id": "1-15445717-C-T",
        "variant": "1:15445717 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15445717,
          "referenceAllele": "C",
          "start": 15445716
        }
      ],
      "hgvs": [
        "NC_000001.11:g.15445717C>T",
        "CM000663.2:g.15445717C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15772212,
          "referenceAllele": "C",
          "start": 15772211
        }
      ],
      "hgvs": [
        "NC_000001.10:g.15772212C>T",
        "CM000663.1:g.15772212C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 15644799,
          "referenceAllele": "C",
          "start": 15644798
        }
      ],
      "hgvs": [
        "NC_000001.9:g.15644799C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12275,
          "referenceAllele": "C",
          "start": 12274
        }
      ],
      "hgvs": [
        "NG_009253.1:g.12275C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001523"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "ENST00000375949.5:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365116.4:p.Arg254Trp",
        "hgvsWellDefined": "ENSP00000365116.4:p.Arg254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751694",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375949.5:c.760C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007272.3:c.760C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365116.4:p.Arg254Trp"
          },
          "RefSeq": {
            "hgvs": "NP_009203.2:p.Arg254Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "ENST00000375943.6:c.*214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365110.2:n.*214C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "ENST00000375949.4:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365116.4:p.Arg254Trp",
        "hgvsWellDefined": "ENSP00000365116.4:p.Arg254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "ENST00000483406.1:n.524C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112562",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "NM_007272.2:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009203.2:p.Arg254Trp",
        "hgvsWellDefined": "NP_009203.2:p.Arg254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "XM_011540550.1:c.614C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538852.1:p.Pro205Leu",
        "hgvsWellDefined": "XP_011538852.1:p.Pro205Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112562",
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002523",
      "geneNCBI_id": 11330,
      "geneSymbol": "CTRC",
      "hgvs": [
        "NM_007272.3:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009203.2:p.Arg254Trp",
        "hgvsWellDefined": "NP_009203.2:p.Arg254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375949.5:c.760C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007272.3:c.760C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365116.4:p.Arg254Trp"
          },
          "RefSeq": {
            "hgvs": "NP_009203.2:p.Arg254Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}