{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA033724",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1451T>C (p.Met484Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6129705",
        "active": true,
        "id": "COSM6129705"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6129706",
        "active": true,
        "id": "COSM6129706"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1836810[alleleid]",
        "alleleId": 1836810,
        "preferredName": "NM_020975.6(RET):c.1451T>C (p.Met484Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1772967",
        "RCV": [
          "RCV002394623",
          "RCV003533227"
        ],
        "variationId": 1772967
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43606842-T-C",
        "id": "10-43606842-T-C",
        "variant": "10:43606842 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43606842T>C?assembly=hg19",
        "id": "chr10:g.43606842T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43111394T>C?assembly=hg38",
        "id": "chr10:g.43111394T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763617146",
        "rs": 763617146
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43606842-T-C?dataset=gnomad_r2_1",
        "id": "10-43606842-T-C",
        "variant": "10:43606842 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43111394-T-C?dataset=gnomad_r4",
        "id": "10-43111394-T-C",
        "variant": "10:43111394 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 43111394,
          "referenceAllele": "T",
          "start": 43111393
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43111394T>C",
        "CM000672.2:g.43111394T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 43606842,
          "referenceAllele": "T",
          "start": 43606841
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43606842T>C",
        "CM000672.1:g.43606842T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 42926848,
          "referenceAllele": "T",
          "start": 42926847
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42926848T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39326,
          "referenceAllele": "T",
          "start": 39325
        }
      ],
      "hgvs": [
        "NG_007489.1:g.39326T>C",
        "LRG_518:g.39326T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "T",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1055T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Met352Thr",
        "hgvsWellDefined": "ENSP00000480088.2:p.Met352Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "T",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1025T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.212T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Met484Thr",
        "hgvsWellDefined": "ENSP00000344798.4:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Met484Thr",
        "hgvsWellDefined": "ENSP00000347942.3:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1451T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1451T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Met484Thr"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Met484Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*45T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*45T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*45T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*45T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1631,
          "referenceAllele": "T",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Met484Thr",
        "hgvsWellDefined": "ENSP00000344798.4:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Met484Thr",
        "hgvsWellDefined": "ENSP00000347942.3:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 704,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.74-705T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.74-705T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "T",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+162T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+162T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1451T>C",
        "LRG_518t2:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Met484Thr",
        "hgvsWellDefined": "NP_065681.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441312",
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1451T>C",
        "LRG_518t1:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Met484Thr",
        "hgvsWellDefined": "NP_066124.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Met484Thr",
        "hgvsWellDefined": "XP_011538329.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046929",
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.689T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Met230Thr",
        "hgvsWellDefined": "NP_001342145.1:p.Met230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Met484Thr",
        "hgvsWellDefined": "NP_065681.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441312",
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Met484Thr",
        "hgvsWellDefined": "NP_066124.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441312",
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Met484Thr",
        "hgvsWellDefined": "NP_066124.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1451T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1451T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Met484Thr"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Met484Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1451T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Met484Thr",
        "hgvsWellDefined": "NP_065681.1:p.Met484Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}