{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2150077615",
  "communityStandardTitle": [
    "NM_000369.5(TSHR):c.*909C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2288493",
        "rs": 2288493
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 81145262,
          "referenceAllele": "C",
          "start": 81145261
        }
      ],
      "hgvs": [
        "NC_000014.9:g.81145262C=",
        "CM000676.2:g.81145262C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 81611606,
          "referenceAllele": "C",
          "start": 81611605
        }
      ],
      "hgvs": [
        "NC_000014.8:g.81611606C=",
        "CM000676.1:g.81611606C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 80681359,
          "referenceAllele": "C",
          "start": 80681358
        }
      ],
      "hgvs": [
        "NC_000014.7:g.80681359C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194738,
          "referenceAllele": "C",
          "start": 194737
        }
      ],
      "hgvs": [
        "NG_009206.1:g.194738C=",
        "LRG_523:g.194738C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.7:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.*909C="
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.*909C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:n.*909C="
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:n.*909C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 84,
          "referenceAllele": "C",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000637447.1:c.1747-85C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3360,
          "referenceAllele": "C",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.6:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3526,
          "referenceAllele": "C",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000541158.6:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441235.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3360,
          "referenceAllele": "C",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.2:c.*909C=",
        "LRG_523t1:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3580,
          "referenceAllele": "C",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.3:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3305,
          "referenceAllele": "C",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.1:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 2086,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_245790.3:n.2086+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 853,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_429385.2:n.853+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 854,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_429386.2:n.854+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944075.1:n.865+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 861,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944076.1:n.861+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944077.1:n.865+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944078.1:n.865+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 855,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944079.1:n.855+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3580,
          "referenceAllele": "C",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.4:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3305,
          "referenceAllele": "C",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.2:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_001751021.1:n.2753+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_001751022.1:n.2753+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_001751023.1:n.2753+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "endIntronDirection": "+",
          "endIntronOffset": 19931,
          "referenceAllele": "G",
          "start": 929,
          "startIntronDirection": "+",
          "startIntronOffset": 19930
        }
      ],
      "hgvs": [
        "XR_944075.3:n.929+19931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.4:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.5:c.*909C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:n.*909C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.*909C="
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.*909C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:n.*909C="
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:n.*909C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}