{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6668820",
  "communityStandardTitle": [
    "NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260888[alleleid]",
        "alleleId": 260888,
        "preferredName": "NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/266068",
        "RCV": [
          "RCV000492091",
          "RCV001855019"
        ],
        "variationId": 266068
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-64860774-C-T",
        "id": "12-64860774-C-T",
        "variant": "12:64860774 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64860774C>T?assembly=hg19",
        "id": "chr12:g.64860774C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64860774_64860776delinsTTG?assembly=hg19",
        "id": "chr12:g.64860774_64860776delinsTTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64466994C>T?assembly=hg38",
        "id": "chr12:g.64466994C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55824172",
        "rs": 55824172
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64860774-C-T?dataset=gnomad_r2_1",
        "id": "12-64860774-C-T",
        "variant": "12:64860774 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64466994-C-T?dataset=gnomad_r3",
        "id": "12-64466994-C-T",
        "variant": "12:64466994 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64466994-C-T?dataset=gnomad_r4",
        "id": "12-64466994-C-T",
        "variant": "12:64466994 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 64466994,
          "referenceAllele": "C",
          "start": 64466993
        }
      ],
      "hgvs": [
        "NC_000012.12:g.64466994C>T",
        "CM000674.2:g.64466994C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 64860774,
          "referenceAllele": "C",
          "start": 64860773
        }
      ],
      "hgvs": [
        "NC_000012.11:g.64860774C>T",
        "CM000674.1:g.64860774C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 63147041,
          "referenceAllele": "C",
          "start": 63147040
        }
      ],
      "hgvs": [
        "NC_000012.10:g.63147041C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19935,
          "referenceAllele": "C",
          "start": 19934
        }
      ],
      "hgvs": [
        "NG_046906.1:g.19935C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.10:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000329967.5:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.452C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.452C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Ser151Phe"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Ser151Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650708.1:c.328C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650762.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498758.1:p.Ser99Phe",
        "hgvsWellDefined": "ENSP00000498758.1:p.Ser99Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650786.1:c.*597C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498280.1:n.*597C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650790.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498995.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000498995.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650997.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498341.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000498341.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651014.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498885.1:p.Ser99Phe",
        "hgvsWellDefined": "ENSP00000498885.1:p.Ser99Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651262.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498461.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000498461.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651878.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499077.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000499077.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651889.1:n.203C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651947.1:n.540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652389.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498414.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000498414.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652537.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499102.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000499102.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652657.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498887.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000498887.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676551.1:n.551C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676654.1:n.581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676684.1:n.581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676809.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504298.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000504298.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676912.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503567.1:p.Ser99Phe",
        "hgvsWellDefined": "ENSP00000503567.1:p.Ser99Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676930.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502899.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000502899.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677016.1:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677112.1:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677499.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502875.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000502875.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677549.1:n.514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677632.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504586.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000504586.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677641.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504637.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000504637.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677686.1:n.555C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677759.1:c.309C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503847.1:n.309C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677831.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503760.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000503760.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677973.1:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146,
          "referenceAllele": "C",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678079.1:c.146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503613.1:p.Ser49Phe",
        "hgvsWellDefined": "ENSP00000503613.1:p.Ser49Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678180.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504132.1:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000504132.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678197.1:n.436C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678738.1:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678808.1:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000679050.1:c.414C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503595.1:n.414C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000679302.1:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503553.1:n.220C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.9:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Ser151Phe",
        "hgvsWellDefined": "ENSP00000329967.5:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485616",
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.3:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Ser151Phe",
        "hgvsWellDefined": "NP_037386.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268809.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268866.1:p.Ser151Phe",
        "hgvsWellDefined": "XP_005268866.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268810.1:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268867.1:p.Ser151Phe",
        "hgvsWellDefined": "XP_005268867.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944524.1:n.611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944525.1:n.611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_001748674.2:n.566C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485616",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.4:c.452C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Ser151Phe",
        "hgvsWellDefined": "NP_037386.1:p.Ser151Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.452C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.452C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Ser151Phe"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Ser151Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}