{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6668932",
  "communityStandardTitle": [
    "NM_013254.4(TBK1):c.964C>T (p.His322Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247083[alleleid]",
        "alleleId": 247083,
        "preferredName": "NM_013254.4(TBK1):c.964C>T (p.His322Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252679",
        "RCV": [
          "RCV000238938",
          "RCV000545768",
          "RCV003930020"
        ],
        "variationId": 252679
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-64875773-C-T",
        "id": "12-64875773-C-T",
        "variant": "12:64875773 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64875773C>T?assembly=hg19",
        "id": "chr12:g.64875773C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64481993C>T?assembly=hg38",
        "id": "chr12:g.64481993C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145905497",
        "rs": 145905497
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64875773-C-T?dataset=gnomad_r2_1",
        "id": "12-64875773-C-T",
        "variant": "12:64875773 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64481993-C-T?dataset=gnomad_r3",
        "id": "12-64481993-C-T",
        "variant": "12:64481993 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64481993-C-T?dataset=gnomad_r4",
        "id": "12-64481993-C-T",
        "variant": "12:64481993 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 64481993,
          "referenceAllele": "C",
          "start": 64481992
        }
      ],
      "hgvs": [
        "NC_000012.12:g.64481993C>T",
        "CM000674.2:g.64481993C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 64875773,
          "referenceAllele": "C",
          "start": 64875772
        }
      ],
      "hgvs": [
        "NC_000012.11:g.64875773C>T",
        "CM000674.1:g.64875773C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 63162040,
          "referenceAllele": "C",
          "start": 63162039
        }
      ],
      "hgvs": [
        "NC_000012.10:g.63162040C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34934,
          "referenceAllele": "C",
          "start": 34933
        }
      ],
      "hgvs": [
        "NG_046906.1:g.34934C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.10:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000329967.5:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.964C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.964C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.His322Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.His322Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 37,
          "referenceAllele": "C",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000545025.2:c.115+37C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650708.1:c.840C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650762.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498758.1:p.His270Tyr",
        "hgvsWellDefined": "ENSP00000498758.1:p.His270Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "referenceAllele": "C",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650786.1:c.*1109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498280.1:n.*1109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650790.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498995.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000498995.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650997.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498341.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000498341.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651014.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498885.1:p.His270Tyr",
        "hgvsWellDefined": "ENSP00000498885.1:p.His270Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651262.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498461.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000498461.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651878.1:c.*448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499077.1:n.*448C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651889.1:n.715C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651947.1:n.1052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652389.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498414.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000498414.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652537.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499102.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000499102.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652657.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498887.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000498887.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676551.1:n.1063C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676654.1:n.1093C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676684.1:n.1093C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676809.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504298.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000504298.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676912.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503567.1:p.His270Tyr",
        "hgvsWellDefined": "ENSP00000503567.1:p.His270Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676930.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502899.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000502899.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 1871,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676983.1:c.111+1871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677499.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502875.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000502875.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677549.1:n.1026C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677632.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504586.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000504586.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677641.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504637.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000504637.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 37,
          "referenceAllele": "C",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677670.1:n.115+37C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677686.1:n.1067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677831.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503760.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000503760.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 37,
          "referenceAllele": "C",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677858.1:c.115+37C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677973.1:c.445C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678180.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504132.1:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000504132.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678197.1:n.947C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678235.1:n.152C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.9:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.His322Tyr",
        "hgvsWellDefined": "ENSP00000329967.5:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485620",
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.3:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.His322Tyr",
        "hgvsWellDefined": "NP_037386.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268809.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268866.1:p.His322Tyr",
        "hgvsWellDefined": "XP_005268866.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268810.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268867.1:p.His322Tyr",
        "hgvsWellDefined": "XP_005268867.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944524.1:n.1123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944525.1:n.1123C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_001748674.2:n.1078C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485620",
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.4:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.His322Tyr",
        "hgvsWellDefined": "NP_037386.1:p.His322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.964C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.964C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.His322Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.His322Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}