{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376549754",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1463C>T (p.Thr488Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595775",
        "active": true,
        "id": "COSM4595775"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595776",
        "active": true,
        "id": "COSM4595776"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1455230[alleleid]",
        "alleleId": 1455230,
        "preferredName": "NM_020975.6(RET):c.1463C>T (p.Thr488Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1484300",
        "RCV": [
          "RCV002005689",
          "RCV002388985"
        ],
        "variationId": 1484300
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43606854C>T?assembly=hg19",
        "id": "chr10:g.43606854C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43111406C>T?assembly=hg38",
        "id": "chr10:g.43111406C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1218693745",
        "rs": 1218693745
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43606854-C-T?dataset=gnomad_r2_1",
        "id": "10-43606854-C-T",
        "variant": "10:43606854 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43111406-C-T?dataset=gnomad_r3",
        "id": "10-43111406-C-T",
        "variant": "10:43111406 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43111406-C-T?dataset=gnomad_r4",
        "id": "10-43111406-C-T",
        "variant": "10:43111406 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43111406,
          "referenceAllele": "C",
          "start": 43111405
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43111406C>T",
        "CM000672.2:g.43111406C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43606854,
          "referenceAllele": "C",
          "start": 43606853
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43606854C>T",
        "CM000672.1:g.43606854C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 42926860,
          "referenceAllele": "C",
          "start": 42926859
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42926860C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39338,
          "referenceAllele": "C",
          "start": 39337
        }
      ],
      "hgvs": [
        "NG_007489.1:g.39338C>T",
        "LRG_518:g.39338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Thr356Ile",
        "hgvsWellDefined": "ENSP00000480088.2:p.Thr356Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1037C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr488Ile",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr488Ile",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr488Ile"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr488Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*57C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*57C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*57C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*57C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr488Ile",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr488Ile",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "C",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.74-693C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.74-693C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 174,
          "referenceAllele": "C",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+174C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+174C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940996",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1463C>T",
        "LRG_518t2:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_065681.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282012",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1463C>T",
        "LRG_518t1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_066124.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Thr488Ile",
        "hgvsWellDefined": "XP_011538329.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046951",
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.701C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Thr234Ile",
        "hgvsWellDefined": "NP_001342145.1:p.Thr234Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940996",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_065681.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282012",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_066124.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282012",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_066124.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr488Ile"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr488Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940996",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr488Ile",
        "hgvsWellDefined": "NP_065681.1:p.Thr488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}