{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3184894",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.895G>A (p.Val299Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4777518",
        "active": true,
        "id": "COSM4777518"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=633020[alleleid]",
        "alleleId": 633020,
        "preferredName": "NM_198253.3(TERT):c.895G>A (p.Val299Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/639956",
        "RCV": [
          "RCV002477800",
          "RCV002536948"
        ],
        "variationId": 639956
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-1294106-C-T",
        "id": "5-1294106-C-T",
        "variant": "5:1294106 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1294106C>T?assembly=hg19",
        "id": "chr5:g.1294106C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1293991C>T?assembly=hg38",
        "id": "chr5:g.1293991C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756624928",
        "rs": 756624928
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1294106-C-T?dataset=gnomad_r2_1",
        "id": "5-1294106-C-T",
        "variant": "5:1294106 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1293991-C-T?dataset=gnomad_r3",
        "id": "5-1293991-C-T",
        "variant": "5:1293991 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1293991-C-T?dataset=gnomad_r4",
        "id": "5-1293991-C-T",
        "variant": "5:1293991 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1293991,
          "referenceAllele": "C",
          "start": 1293990
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1293991C>T",
        "CM000667.2:g.1293991C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1294106,
          "referenceAllele": "C",
          "start": 1294105
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1294106C>T",
        "CM000667.1:g.1294106C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347106,
          "referenceAllele": "C",
          "start": 1347105
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1347106C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6057,
          "referenceAllele": "G",
          "start": 6056
        }
      ],
      "hgvs": [
        "NG_009265.1:g.6057G>A",
        "LRG_343:g.6057G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Val299Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.895G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.895G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Val299Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Val299Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:p.Val299Met",
        "hgvsWellDefined": "ENSP00000499759.1:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Val299Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Val299Met",
        "hgvsWellDefined": "ENSP00000334346.6:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:p.Val299Met",
        "hgvsWellDefined": "ENSP00000425003.1:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000508104.2:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426042.2:p.Val299Met",
        "hgvsWellDefined": "ENSP00000426042.2:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181672",
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val299Met",
        "hgvsWellDefined": "NP_001180305.1:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057742",
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.895G>A",
        "LRG_343t1:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Val299Met",
        "hgvsWellDefined": "NP_937983.2:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181672",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val299Met",
        "hgvsWellDefined": "NP_001180305.1:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057742",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Val299Met",
        "hgvsWellDefined": "NP_937983.2:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.895G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.895G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Val299Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Val299Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181672",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.895G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val299Met",
        "hgvsWellDefined": "NP_001180305.1:p.Val299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}