{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145471",
  "communityStandardTitle": [
    "NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5564772",
        "active": true,
        "id": "COSM5564772"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5564773",
        "active": true,
        "id": "COSM5564773"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=97322[alleleid]",
        "alleleId": 97322,
        "preferredName": "NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/91845",
        "RCV": [
          "RCV000077753",
          "RCV001701490",
          "RCV004019521"
        ],
        "variationId": 91845
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41211045-G-A",
        "id": "19-41211045-G-A",
        "variant": "19:41211045 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41211045G>A?assembly=hg19",
        "id": "chr19:g.41211045G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40705140G>A?assembly=hg38",
        "id": "chr19:g.40705140G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122978",
        "rs": 398122978
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41211045-G-A?dataset=gnomad_r2_1",
        "id": "19-41211045-G-A",
        "variant": "19:41211045 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40705140-G-A?dataset=gnomad_r3",
        "id": "19-40705140-G-A",
        "variant": "19:40705140 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40705140-G-A?dataset=gnomad_r4",
        "id": "19-40705140-G-A",
        "variant": "19:40705140 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40705140,
          "referenceAllele": "G",
          "start": 40705139
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40705140G>A",
        "CM000681.2:g.40705140G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41211045,
          "referenceAllele": "G",
          "start": 41211044
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41211045G>A",
        "CM000681.1:g.41211045G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45902885,
          "referenceAllele": "G",
          "start": 45902884
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45902885G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16746,
          "referenceAllele": "C",
          "start": 16745
        }
      ],
      "hgvs": [
        "NG_027800.1:g.16746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003970"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000324464.8:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315118.3:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000315118.3:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324464.8:c.532C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024876.4:c.532C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315118.3:p.Arg178Trp"
          },
          "RefSeq": {
            "hgvs": "NP_079152.3:p.Arg178Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "endIntronDirection": "-",
          "endIntronOffset": 1517,
          "referenceAllele": "C",
          "start": 392,
          "startIntronDirection": "-",
          "startIntronOffset": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000593724.2:n.393-1518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000594490.6:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471310.2:p.Arg152Trp",
        "hgvsWellDefined": "ENSP00000471310.2:p.Arg152Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000594720.6:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470876.2:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000470876.2:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000596455.6:n.824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000601967.6:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470916.2:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000470916.2:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000676555.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503387.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000503387.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000676578.1:c.*274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504076.1:n.*274C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000676960.1:n.657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000676962.1:n.811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677018.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503480.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000503480.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677039.1:n.587C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677399.1:n.974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677496.1:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504773.1:p.Arg69Trp",
        "hgvsWellDefined": "ENSP00000504773.1:p.Arg69Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677517.1:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503519.1:p.Arg69Trp",
        "hgvsWellDefined": "ENSP00000503519.1:p.Arg69Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677633.1:c.525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503645.1:p.Ser175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4090,
          "referenceAllele": "C",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000677800.1:c.*3636C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503794.1:n.*3636C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678057.1:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503762.1:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678119.1:n.726C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678166.1:n.816C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678312.1:n.869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678316.1:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504112.1:p.Ser169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678371.1:n.890C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678404.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503944.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000503944.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678419.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504085.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000504085.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678433.1:n.892C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678467.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504072.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000504072.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678569.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504261.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000504261.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000678961.1:n.715C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000679002.1:n.711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000679012.1:c.88C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504446.1:p.Arg30Trp",
        "hgvsWellDefined": "ENSP00000504446.1:p.Arg30Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000679070.1:c.198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503759.1:p.Ser66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000679130.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504845.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000504845.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000679315.1:c.*362C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503065.1:n.*362C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000243583.10:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243583.5:p.Arg137Trp",
        "hgvsWellDefined": "ENSP00000243583.5:p.Arg137Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000324464.7:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315118.3:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000315118.3:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000595254.5:c.205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470894.1:p.Arg69Trp",
        "hgvsWellDefined": "ENSP00000470894.1:p.Arg69Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000596455.5:n.652C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000599643.5:c.291C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471192.1:p.Ser97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000600080.5:c.198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473017.1:p.Ser66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000601304.5:c.*306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472519.1:n.*306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000601451.5:n.977C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "ENST00000601967.5:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470916.1:p.Arg178Trp",
        "hgvsWellDefined": "ENSP00000470916.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825799094",
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NM_001142555.2:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136027.1:p.Arg137Trp",
        "hgvsWellDefined": "NP_001136027.1:p.Arg137Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092744",
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NM_024876.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079152.3:p.Arg178Trp",
        "hgvsWellDefined": "NP_079152.3:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_005259270.3:c.694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259327.2:p.Arg232Trp",
        "hgvsWellDefined": "XP_005259327.2:p.Arg232Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_005259271.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259328.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_005259328.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_005259272.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259329.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_005259329.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_005259273.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259330.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_005259330.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_006723392.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723455.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_006723455.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_006723393.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723456.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_006723456.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_011527334.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525636.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011525636.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_011527335.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525637.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011525637.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_011527336.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525638.1:p.Arg188Trp",
        "hgvsWellDefined": "XP_011525638.1:p.Arg188Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "referenceAllele": "C",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_011527337.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525639.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011525639.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "XM_011527338.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525640.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011525640.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092744",
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NM_024876.4:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079152.3:p.Arg178Trp",
        "hgvsWellDefined": "NP_079152.3:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324464.8:c.532C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024876.4:c.532C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315118.3:p.Arg178Trp"
          },
          "RefSeq": {
            "hgvs": "NP_079152.3:p.Arg178Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825799094",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NM_001142555.3:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136027.1:p.Arg137Trp",
        "hgvsWellDefined": "NP_001136027.1:p.Arg137Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677567"
    }
  ],
  "type": "nucleotide"
}