{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118263",
  "communityStandardTitle": [
    "NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21494[alleleid]",
        "alleleId": 21494,
        "preferredName": "NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6455",
        "RCV": [
          "RCV000006826"
        ],
        "variationId": 6455
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.81609832C>T?assembly=hg19",
        "id": "chr14:g.81609832C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.81143488C>T?assembly=hg38",
        "id": "chr14:g.81143488C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908881",
        "rs": 121908881
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-81609832-C-T?dataset=gnomad_r2_1",
        "id": "14-81609832-C-T",
        "variant": "14:81609832 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-81143488-C-T?dataset=gnomad_r4",
        "id": "14-81143488-C-T",
        "variant": "14:81143488 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 81143488,
          "referenceAllele": "C",
          "start": 81143487
        }
      ],
      "hgvs": [
        "NC_000014.9:g.81143488C>T",
        "CM000676.2:g.81143488C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 81609832,
          "referenceAllele": "C",
          "start": 81609831
        }
      ],
      "hgvs": [
        "NC_000014.8:g.81609832C>T",
        "CM000676.1:g.81609832C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 80679585,
          "referenceAllele": "C",
          "start": 80679584
        }
      ],
      "hgvs": [
        "NC_000014.7:g.80679585C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192964,
          "referenceAllele": "C",
          "start": 192963
        }
      ],
      "hgvs": [
        "NG_009206.1:g.192964C>T",
        "LRG_523:g.192964C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.7:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:p.Thr477Ile",
        "hgvsWellDefined": "ENSP00000298171.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.1430C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.1430C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Thr477Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Thr477Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000636454.1:n.1348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000637447.1:c.333C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.6:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:p.Thr477Ile",
        "hgvsWellDefined": "ENSP00000298171.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000541158.6:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441235.2:p.Thr477Ile",
        "hgvsWellDefined": "ENSP00000441235.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.2:c.1430C>T",
        "LRG_523t1:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Thr477Ile",
        "hgvsWellDefined": "NP_000360.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.3:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:p.Thr477Ile",
        "hgvsWellDefined": "XP_005268094.1:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.1:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:p.Thr384Ile",
        "hgvsWellDefined": "XP_011535421.1:p.Thr384Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2086,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 2086,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_245790.3:n.2086+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 853,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_429385.2:n.853+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 854,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_429386.2:n.854+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944075.1:n.865+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 861,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944076.1:n.861+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944077.1:n.865+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944078.1:n.865+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 855,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944079.1:n.855+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.4:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:p.Thr477Ile",
        "hgvsWellDefined": "XP_005268094.1:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.2:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:p.Thr384Ile",
        "hgvsWellDefined": "XP_011535421.1:p.Thr384Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_001751021.1:n.2753+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_001751022.1:n.2753+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_001751023.1:n.2753+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "endIntronDirection": "+",
          "endIntronOffset": 21705,
          "referenceAllele": "G",
          "start": 929,
          "startIntronDirection": "+",
          "startIntronOffset": 21704
        }
      ],
      "hgvs": [
        "XR_944075.3:n.929+21705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.4:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Thr477Ile",
        "hgvsWellDefined": "NP_000360.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.5:c.1430C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Thr477Ile",
        "hgvsWellDefined": "NP_000360.2:p.Thr477Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.1430C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.1430C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Thr477Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Thr477Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}