{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7725010",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.868C>T (p.Arg290Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2015412",
        "active": true,
        "id": "COSM2015412"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=860199[alleleid]",
        "alleleId": 860199,
        "preferredName": "NM_002693.3(POLG):c.868C>T (p.Arg290Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/872786",
        "RCV": [
          "RCV001093440",
          "RCV001847155",
          "RCV002555968",
          "RCV002554873",
          "RCV003155359"
        ],
        "variationId": 872786
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89872329-G-A",
        "id": "15-89872329-G-A",
        "variant": "15:89872329 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89872329G>A?assembly=hg19",
        "id": "chr15:g.89872329G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89329098G>A?assembly=hg38",
        "id": "chr15:g.89329098G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753416225",
        "rs": 753416225
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89872329-G-A?dataset=gnomad_r2_1",
        "id": "15-89872329-G-A",
        "variant": "15:89872329 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89329098-G-A?dataset=gnomad_r3",
        "id": "15-89329098-G-A",
        "variant": "15:89329098 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89329098-G-A?dataset=gnomad_r4",
        "id": "15-89329098-G-A",
        "variant": "15:89329098 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89329098,
          "referenceAllele": "G",
          "start": 89329097
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89329098G>A",
        "CM000677.2:g.89329098G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89872329,
          "referenceAllele": "G",
          "start": 89872328
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89872329G>A",
        "CM000677.1:g.89872329G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87673333,
          "referenceAllele": "G",
          "start": 87673332
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87673333G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10698,
          "referenceAllele": "C",
          "start": 10697
        }
      ],
      "hgvs": [
        "NG_008218.1:g.10698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10698,
          "referenceAllele": "C",
          "start": 10697
        }
      ],
      "hgvs": [
        "NG_008218.2:g.10698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000516154.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000268124.5:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.868C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.868C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Arg290Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Arg290Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Arg157Cys",
        "hgvsWellDefined": "ENSP00000432885.2:p.Arg157Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000490653.2:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000489799.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.525C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.1066C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000268124.5:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Arg290Cys",
        "hgvsWellDefined": "ENSP00000399851.2:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Arg290Cys",
        "hgvsWellDefined": "NP_001119603.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717961",
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Arg290Cys",
        "hgvsWellDefined": "NP_002684.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Arg290Cys",
        "hgvsWellDefined": "NP_001119603.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717961",
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Arg290Cys",
        "hgvsWellDefined": "NP_002684.1:p.Arg290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.868C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.868C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Arg290Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Arg290Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}