{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3184353",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2153356",
        "active": true,
        "id": "COSM2153356"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2153357",
        "active": true,
        "id": "COSM2153357"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=829852[alleleid]",
        "alleleId": 829852,
        "preferredName": "NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/842944",
        "RCV": [
          "RCV002436572",
          "RCV002552581"
        ],
        "variationId": 842944
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-1260707-C-T",
        "id": "5-1260707-C-T",
        "variant": "5:1260707 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1260707C>T?assembly=hg19",
        "id": "chr5:g.1260707C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1260592C>T?assembly=hg38",
        "id": "chr5:g.1260592C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755707625",
        "rs": 755707625
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1260707-C-T?dataset=gnomad_r2_1",
        "id": "5-1260707-C-T",
        "variant": "5:1260707 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1260592-C-T?dataset=gnomad_r3",
        "id": "5-1260592-C-T",
        "variant": "5:1260592 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1260592-C-T?dataset=gnomad_r4",
        "id": "5-1260592-C-T",
        "variant": "5:1260592 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1260592,
          "referenceAllele": "C",
          "start": 1260591
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1260592C>T",
        "CM000667.2:g.1260592C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1260707,
          "referenceAllele": "C",
          "start": 1260706
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1260707C>T",
        "CM000667.1:g.1260707C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1313707,
          "referenceAllele": "C",
          "start": 1313706
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1313707C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39456,
          "referenceAllele": "G",
          "start": 39455
        }
      ],
      "hgvs": [
        "NG_009265.1:g.39456G>A",
        "LRG_343:g.39456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2931,
          "referenceAllele": "G",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.2852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg951Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg951Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2852G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2852G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg951Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg951Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4181,
          "referenceAllele": "G",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*2398G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*2398G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "referenceAllele": "G",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000667927.1:n.140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2910,
          "referenceAllele": "G",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.2852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg951Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg951Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2663,
          "referenceAllele": "G",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.2663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Arg888Gln",
        "hgvsWellDefined": "ENSP00000334346.6:p.Arg888Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2445,
          "referenceAllele": "G",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:n.2445G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.1294G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182787",
      "coordinates": [
        {
          "allele": "A",
          "end": 2721,
          "referenceAllele": "G",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.2663G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg888Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg888Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766224",
      "coordinates": [
        {
          "allele": "A",
          "end": 2910,
          "referenceAllele": "G",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.2852G>A",
        "LRG_343t1:c.2852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg951Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg951Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Arg441Gln",
        "hgvsWellDefined": "XP_011512406.1:p.Arg441Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.1208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Arg403Gln",
        "hgvsWellDefined": "XP_011512407.1:p.Arg403Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "referenceAllele": "G",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.1208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Arg403Gln",
        "hgvsWellDefined": "XP_011512408.1:p.Arg403Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "referenceAllele": "G",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.2539G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2503,
          "referenceAllele": "G",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.2503G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182787",
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.2663G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg888Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg888Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766224",
      "coordinates": [
        {
          "allele": "A",
          "end": 2931,
          "referenceAllele": "G",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.2852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg951Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg951Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2852G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2852G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg951Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg951Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.2560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "G",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.2524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182787",
      "coordinates": [
        {
          "allele": "A",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.2663G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg888Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg888Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.2560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "G",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.2524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}