{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3184390",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=632891[alleleid]",
        "alleleId": 632891,
        "preferredName": "NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665677",
        "RCV": [
          "RCV001293959",
          "RCV002536010",
          "RCV003222148",
          "RCV004538131"
        ],
        "variationId": 665677
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-1264549-C-T",
        "id": "5-1264549-C-T",
        "variant": "5:1264549 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1264549C>T?assembly=hg19",
        "id": "chr5:g.1264549C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1264434C>T?assembly=hg38",
        "id": "chr5:g.1264434C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199741493",
        "rs": 199741493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1264549-C-T?dataset=gnomad_r2_1",
        "id": "5-1264549-C-T",
        "variant": "5:1264549 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1264434-C-T?dataset=gnomad_r3",
        "id": "5-1264434-C-T",
        "variant": "5:1264434 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1264434-C-T?dataset=gnomad_r4",
        "id": "5-1264434-C-T",
        "variant": "5:1264434 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1264434,
          "referenceAllele": "C",
          "start": 1264433
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1264434C>T",
        "CM000667.2:g.1264434C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1264549,
          "referenceAllele": "C",
          "start": 1264548
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1264549C>T",
        "CM000667.1:g.1264549C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317549,
          "referenceAllele": "C",
          "start": 1317548
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1317549C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35614,
          "referenceAllele": "G",
          "start": 35613
        }
      ],
      "hgvs": [
        "NG_009265.1:g.35614G>A",
        "LRG_343:g.35614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.2813G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg938Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg938Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2813G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2813G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg938Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg938Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4142,
          "referenceAllele": "G",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*2359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*2359G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000667927.1:n.101G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.2813G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg938Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg938Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2654,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2654,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.2654+2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:n.2654+2030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2436,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2436,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2436+2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:n.2436+2030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 1285,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.1285+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000503656.1:n.220G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2712,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2712,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.2654+2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:n.2654+2030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916058154",
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.2813G>A",
        "LRG_343t1:c.2813G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg938Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg938Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.1283G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Arg428Gln",
        "hgvsWellDefined": "XP_011512406.1:p.Arg428Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.1169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Arg390Gln",
        "hgvsWellDefined": "XP_011512407.1:p.Arg390Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1448,
          "referenceAllele": "G",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.1169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Arg390Gln",
        "hgvsWellDefined": "XP_011512408.1:p.Arg390Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2530,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.2530+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2494,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.2494+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2733,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2733,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.2654+2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:n.2654+2030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916058154",
      "coordinates": [
        {
          "allele": "A",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.2813G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg938Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg938Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2813G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2813G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg938Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg938Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2551,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2551,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.2551+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.2515+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2733,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2733,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.2654+2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:n.2654+2030G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2551,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2551,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.2551+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "endIntronDirection": "+",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 2515,
          "startIntronDirection": "+",
          "startIntronOffset": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.2515+2030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}