{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA035206",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1717G>A (p.Val573Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=918113",
        "active": true,
        "id": "COSM918113"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809934[alleleid]",
        "alleleId": 809934,
        "preferredName": "NM_020975.6(RET):c.1717G>A (p.Val573Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/819914",
        "RCV": [
          "RCV001012856",
          "RCV001071883",
          "RCV003480903"
        ],
        "variationId": 819914
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43608369-G-A",
        "id": "10-43608369-G-A",
        "variant": "10:43608369 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43608369G>A?assembly=hg19",
        "id": "chr10:g.43608369G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43112921G>A?assembly=hg38",
        "id": "chr10:g.43112921G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758766818",
        "rs": 758766818
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43608369-G-A?dataset=gnomad_r2_1",
        "id": "10-43608369-G-A",
        "variant": "10:43608369 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43112921-G-A?dataset=gnomad_r3",
        "id": "10-43112921-G-A",
        "variant": "10:43112921 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43112921-G-A?dataset=gnomad_r4",
        "id": "10-43112921-G-A",
        "variant": "10:43112921 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43112921,
          "referenceAllele": "G",
          "start": 43112920
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43112921G>A",
        "CM000672.2:g.43112921G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43608369,
          "referenceAllele": "G",
          "start": 43608368
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43608369G>A",
        "CM000672.1:g.43608369G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 42928375,
          "referenceAllele": "G",
          "start": 42928374
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42928375G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40853,
          "referenceAllele": "G",
          "start": 40852
        }
      ],
      "hgvs": [
        "NG_007489.1:g.40853G>A",
        "LRG_518:g.40853G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1321G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Val441Met",
        "hgvsWellDefined": "ENSP00000480088.2:p.Val441Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1291G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Val573Met",
        "hgvsWellDefined": "ENSP00000344798.4:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Val573Met",
        "hgvsWellDefined": "ENSP00000347942.3:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1717G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1717G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Val573Met"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Val573Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Val573Met",
        "hgvsWellDefined": "ENSP00000344798.4:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Val573Met",
        "hgvsWellDefined": "ENSP00000347942.3:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Val90Met",
        "hgvsWellDefined": "ENSP00000419080.1:p.Val90Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1689,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+1689G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941398",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1717G>A",
        "LRG_518t2:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Val573Met",
        "hgvsWellDefined": "NP_065681.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054647",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1717G>A",
        "LRG_518t1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Val573Met",
        "hgvsWellDefined": "NP_066124.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Val573Met",
        "hgvsWellDefined": "XP_011538329.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047339",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Val319Met",
        "hgvsWellDefined": "NP_001342145.1:p.Val319Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941398",
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Val573Met",
        "hgvsWellDefined": "NP_065681.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054647",
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Val573Met",
        "hgvsWellDefined": "NP_066124.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054647",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Val573Met",
        "hgvsWellDefined": "NP_066124.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1717G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1717G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Val573Met"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Val573Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941398",
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1717G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Val573Met",
        "hgvsWellDefined": "NP_065681.1:p.Val573Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}