{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7724627",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.1977C>T (p.His659=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=586277[alleleid]",
        "alleleId": 586277,
        "preferredName": "NM_002693.3(POLG):c.1977C>T (p.His659=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/595215",
        "RCV": [
          "RCV000730709",
          "RCV001455893",
          "RCV003985814"
        ],
        "variationId": 595215
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89867431-G-A",
        "id": "15-89867431-G-A",
        "variant": "15:89867431 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89867431G>A?assembly=hg19",
        "id": "chr15:g.89867431G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89324200G>A?assembly=hg38",
        "id": "chr15:g.89324200G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62640030",
        "rs": 62640030
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89867431-G-A?dataset=gnomad_r2_1",
        "id": "15-89867431-G-A",
        "variant": "15:89867431 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89324200-G-A?dataset=gnomad_r3",
        "id": "15-89324200-G-A",
        "variant": "15:89324200 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89324200-G-A?dataset=gnomad_r4",
        "id": "15-89324200-G-A",
        "variant": "15:89324200 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89324200,
          "referenceAllele": "G",
          "start": 89324199
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89324200G>A",
        "CM000677.2:g.89324200G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89867431,
          "referenceAllele": "G",
          "start": 89867430
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89867431G>A",
        "CM000677.1:g.89867431G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87668435,
          "referenceAllele": "G",
          "start": 87668434
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87668435G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15596,
          "referenceAllele": "C",
          "start": 15595
        }
      ],
      "hgvs": [
        "NG_008218.1:g.15596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15596,
          "referenceAllele": "C",
          "start": 15595
        }
      ],
      "hgvs": [
        "NG_008218.2:g.15596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2921,
          "referenceAllele": "C",
          "start": 2920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1977C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1977C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.His659="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.His659="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.His526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*544C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:p.Thr225Ile",
        "hgvsWellDefined": "ENSP00000490756.1:p.Thr225Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1049C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.1554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.297C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:p.His99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2175C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2080C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526314.2:c.359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526398.1:c.139-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526573.1:n.63C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.179C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000533857.1:n.92C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1360C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621362",
      "coordinates": [
        {
          "allele": "T",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399461",
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621362",
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399461",
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.His659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1977C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1977C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.His659="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.His659="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}