{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA292834",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2601T>C (p.Pro867=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142453[alleleid]",
        "alleleId": 142453,
        "preferredName": "NM_002693.3(POLG):c.2601T>C (p.Pro867=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138750",
        "RCV": [
          "RCV000127526",
          "RCV000403402",
          "RCV000734626",
          "RCV000709782",
          "RCV001457683",
          "RCV003985730"
        ],
        "variationId": 138750
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89864489-A-G",
        "id": "15-89864489-A-G",
        "variant": "15:89864489 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89864489A>G?assembly=hg19",
        "id": "chr15:g.89864489A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89321258A>G?assembly=hg38",
        "id": "chr15:g.89321258A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201749977",
        "rs": 201749977
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89864489-A-G?dataset=gnomad_r2_1",
        "id": "15-89864489-A-G",
        "variant": "15:89864489 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89321258-A-G?dataset=gnomad_r3",
        "id": "15-89321258-A-G",
        "variant": "15:89321258 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89321258-A-G?dataset=gnomad_r4",
        "id": "15-89321258-A-G",
        "variant": "15:89321258 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89321258,
          "referenceAllele": "A",
          "start": 89321257
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89321258A>G",
        "CM000677.2:g.89321258A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89864489,
          "referenceAllele": "A",
          "start": 89864488
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89864489A>G",
        "CM000677.1:g.89864489A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87665493,
          "referenceAllele": "A",
          "start": 87665492
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87665493A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18538,
          "referenceAllele": "T",
          "start": 18537
        }
      ],
      "hgvs": [
        "NG_008218.1:g.18538T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18538,
          "referenceAllele": "T",
          "start": 18537
        }
      ],
      "hgvs": [
        "NG_008218.2:g.18538T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3545,
          "referenceAllele": "T",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2912,
          "referenceAllele": "T",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2601T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2601T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Pro867="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Pro867="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2202,
          "referenceAllele": "T",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Pro734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2799,
          "referenceAllele": "T",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2928,
          "referenceAllele": "T",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1168T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1168T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1298,
          "referenceAllele": "T",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.1298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.1298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "referenceAllele": "T",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1673T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2178,
          "referenceAllele": "T",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2178T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 704,
          "referenceAllele": "T",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.800+704T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.800+704T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2799,
          "referenceAllele": "T",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2799T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "referenceAllele": "T",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2543T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2935,
          "referenceAllele": "T",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "T",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.198T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 388,
          "referenceAllele": "T",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.186-389T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:n.186-389T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3103,
          "referenceAllele": "T",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2025T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2025T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621853",
      "coordinates": [
        {
          "allele": "C",
          "end": 2871,
          "referenceAllele": "T",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399738",
      "coordinates": [
        {
          "allele": "C",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621853",
      "coordinates": [
        {
          "allele": "C",
          "end": 2900,
          "referenceAllele": "T",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399738",
      "coordinates": [
        {
          "allele": "C",
          "end": 2912,
          "referenceAllele": "T",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2601T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Pro867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2601T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2601T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Pro867="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Pro867="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}