{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008622",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.2261C>T (p.Thr754Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138916[alleleid]",
        "alleleId": 138916,
        "preferredName": "NM_020975.6(RET):c.2261C>T (p.Thr754Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135177",
        "RCV": [
          "RCV000121979",
          "RCV000202914",
          "RCV000410377",
          "RCV000411486",
          "RCV000462996",
          "RCV000573705",
          "RCV002492438",
          "RCV003151746",
          "RCV003460858"
        ],
        "variationId": 135177
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43612156-C-T",
        "id": "10-43612156-C-T",
        "variant": "10:43612156 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43612156C>T?assembly=hg19",
        "id": "chr10:g.43612156C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43116708C>T?assembly=hg38",
        "id": "chr10:g.43116708C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/181856591",
        "rs": 181856591
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43612156-C-T?dataset=gnomad_r2_1",
        "id": "10-43612156-C-T",
        "variant": "10:43612156 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43116708-C-T?dataset=gnomad_r3",
        "id": "10-43116708-C-T",
        "variant": "10:43116708 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43116708-C-T?dataset=gnomad_r4",
        "id": "10-43116708-C-T",
        "variant": "10:43116708 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43116708,
          "referenceAllele": "C",
          "start": 43116707
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43116708C>T",
        "CM000672.2:g.43116708C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43612156,
          "referenceAllele": "C",
          "start": 43612155
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43612156C>T",
        "CM000672.1:g.43612156C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 42932162,
          "referenceAllele": "C",
          "start": 42932161
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42932162C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44640,
          "referenceAllele": "C",
          "start": 44639
        }
      ],
      "hgvs": [
        "NG_007489.1:g.44640C>T",
        "LRG_518:g.44640C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Thr622Met",
        "hgvsWellDefined": "ENSP00000480088.2:p.Thr622Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1835C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.1826C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr754Met",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr754Met",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr754Met"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr754Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*855C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*855C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr754Met",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr754Met",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "endIntronDirection": "-",
          "endIntronOffset": 2993,
          "referenceAllele": "C",
          "start": 1479,
          "startIntronDirection": "-",
          "startIntronOffset": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1290-2994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1290-2994C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213408",
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.2261C>T",
        "LRG_518t2:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr754Met",
        "hgvsWellDefined": "NP_065681.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213409",
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.2261C>T",
        "LRG_518t1:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr754Met",
        "hgvsWellDefined": "NP_066124.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Thr754Met",
        "hgvsWellDefined": "XP_011538329.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828048105",
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Thr500Met",
        "hgvsWellDefined": "NP_001342145.1:p.Thr500Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213408",
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr754Met",
        "hgvsWellDefined": "NP_065681.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213409",
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr754Met",
        "hgvsWellDefined": "NP_066124.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213409",
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr754Met",
        "hgvsWellDefined": "NP_066124.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr754Met"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr754Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA213408",
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.2261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr754Met",
        "hgvsWellDefined": "NP_065681.1:p.Thr754Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}