{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118248",
  "communityStandardTitle": [
    "NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=26483",
        "active": true,
        "id": "COSM26483"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21489[alleleid]",
        "alleleId": 21489,
        "preferredName": "NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6450",
        "RCV": [
          "RCV000006820",
          "RCV002468962"
        ],
        "variationId": 6450
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.81609916G>A?assembly=hg19",
        "id": "chr14:g.81609916G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.81143572G>A?assembly=hg38",
        "id": "chr14:g.81143572G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908876",
        "rs": 121908876
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 81143572,
          "referenceAllele": "G",
          "start": 81143571
        }
      ],
      "hgvs": [
        "NC_000014.9:g.81143572G>A",
        "CM000676.2:g.81143572G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 81609916,
          "referenceAllele": "G",
          "start": 81609915
        }
      ],
      "hgvs": [
        "NC_000014.8:g.81609916G>A",
        "CM000676.1:g.81609916G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 80679669,
          "referenceAllele": "G",
          "start": 80679668
        }
      ],
      "hgvs": [
        "NC_000014.7:g.80679669G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193048,
          "referenceAllele": "G",
          "start": 193047
        }
      ],
      "hgvs": [
        "NG_009206.1:g.193048G>A",
        "LRG_523:g.193048G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.7:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:p.Ser505Asn",
        "hgvsWellDefined": "ENSP00000298171.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744576",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.1514G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.1514G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Ser505Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Ser505Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000636454.1:n.1432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "G",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000637447.1:c.417G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000298171.6:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298171.2:p.Ser505Asn",
        "hgvsWellDefined": "ENSP00000298171.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "ENST00000541158.6:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441235.2:p.Ser505Asn",
        "hgvsWellDefined": "ENSP00000441235.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118250",
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.2:c.1514G>A",
        "LRG_523t1:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Ser505Asn",
        "hgvsWellDefined": "NP_000360.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.3:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:p.Ser505Asn",
        "hgvsWellDefined": "XP_005268094.1:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.1:c.1235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:p.Ser412Asn",
        "hgvsWellDefined": "XP_011535421.1:p.Ser412Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 2086,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_245790.3:n.2086+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 853,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_429385.2:n.853+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 854,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_429386.2:n.854+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944075.1:n.865+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 861,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944076.1:n.861+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944077.1:n.865+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944078.1:n.865+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 855,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944079.1:n.855+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_005268037.4:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268094.1:p.Ser505Asn",
        "hgvsWellDefined": "XP_005268094.1:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "XM_011537119.2:c.1235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535421.1:p.Ser412Asn",
        "hgvsWellDefined": "XP_011535421.1:p.Ser412Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_001751021.1:n.2753+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_001751022.1:n.2753+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 2753,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_001751023.1:n.2753+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "endIntronDirection": "+",
          "endIntronOffset": 21621,
          "referenceAllele": "C",
          "start": 929,
          "startIntronDirection": "+",
          "startIntronOffset": 21620
        }
      ],
      "hgvs": [
        "XR_944075.3:n.929+21621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118250",
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.4:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Ser505Asn",
        "hgvsWellDefined": "NP_000360.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118250",
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.5:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Ser505Asn",
        "hgvsWellDefined": "NP_000360.2:p.Ser505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.1514G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.1514G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Ser505Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Ser505Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}