{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6669199",
  "communityStandardTitle": [
    "NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=567036[alleleid]",
        "alleleId": 567036,
        "preferredName": "NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580527",
        "RCV": [
          "RCV000704095",
          "RCV003980319"
        ],
        "variationId": 580527
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-64891037-G-C",
        "id": "12-64891037-G-C",
        "variant": "12:64891037 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64891037G>C?assembly=hg19",
        "id": "chr12:g.64891037G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64497257G>C?assembly=hg38",
        "id": "chr12:g.64497257G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144370662",
        "rs": 144370662
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64891037-G-C?dataset=gnomad_r2_1",
        "id": "12-64891037-G-C",
        "variant": "12:64891037 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64497257-G-C?dataset=gnomad_r3",
        "id": "12-64497257-G-C",
        "variant": "12:64497257 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64497257-G-C?dataset=gnomad_r4",
        "id": "12-64497257-G-C",
        "variant": "12:64497257 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 64497257,
          "referenceAllele": "G",
          "start": 64497256
        }
      ],
      "hgvs": [
        "NC_000012.12:g.64497257G>C",
        "CM000674.2:g.64497257G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 64891037,
          "referenceAllele": "G",
          "start": 64891036
        }
      ],
      "hgvs": [
        "NC_000012.11:g.64891037G>C",
        "CM000674.1:g.64891037G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 63177304,
          "referenceAllele": "G",
          "start": 63177303
        }
      ],
      "hgvs": [
        "NC_000012.10:g.63177304G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50198,
          "referenceAllele": "G",
          "start": 50197
        }
      ],
      "hgvs": [
        "NG_046906.1:g.50198G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.10:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Glu653Gln",
        "hgvsWellDefined": "ENSP00000329967.5:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.1957G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.1957G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Glu653Gln"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Glu653Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000545392.2:n.863G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650708.1:c.1994G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650762.1:c.1699G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498758.1:p.Glu567Gln",
        "hgvsWellDefined": "ENSP00000498758.1:p.Glu567Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2306,
          "referenceAllele": "G",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650786.1:c.*2102G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498280.1:n.*2102G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650790.1:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498995.1:p.Glu653Gln",
        "hgvsWellDefined": "ENSP00000498995.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650997.1:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498341.1:p.Glu653Gln",
        "hgvsWellDefined": "ENSP00000498341.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "G",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651014.1:c.1801G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498885.1:p.Glu601Gln",
        "hgvsWellDefined": "ENSP00000498885.1:p.Glu601Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "referenceAllele": "G",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651262.1:c.*224G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498461.1:n.*224G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651878.1:c.*1441G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499077.1:n.*1441G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2192,
          "referenceAllele": "G",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652537.1:c.*337G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499102.1:n.*337G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2064,
          "referenceAllele": "G",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652657.1:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498887.1:p.Glu653Gln",
        "hgvsWellDefined": "ENSP00000498887.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676521.1:c.431G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503000.1:n.431G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 4072,
          "referenceAllele": "G",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676587.1:c.80-4073G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676654.1:n.2086G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2677,
          "referenceAllele": "G",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676684.1:n.2677G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2307,
          "referenceAllele": "G",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676809.1:c.*646G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504298.1:n.*646G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676912.1:c.1801G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503567.1:p.Glu601Gln",
        "hgvsWellDefined": "ENSP00000503567.1:p.Glu601Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676930.1:c.1609G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502899.1:p.Glu537Gln",
        "hgvsWellDefined": "ENSP00000502899.1:p.Glu537Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677499.1:c.*333G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502875.1:n.*333G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677632.1:c.1942G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504586.1:p.Glu648Gln",
        "hgvsWellDefined": "ENSP00000504586.1:p.Glu648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2083,
          "referenceAllele": "G",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677641.1:c.1954G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504637.1:p.Glu652Gln",
        "hgvsWellDefined": "ENSP00000504637.1:p.Glu652Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5026,
          "referenceAllele": "G",
          "start": 5025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677686.1:n.5026G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677831.1:c.*337G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503760.1:n.*337G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678180.1:c.1855G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504132.1:p.Glu619Gln",
        "hgvsWellDefined": "ENSP00000504132.1:p.Glu619Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678197.1:n.1940G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678567.1:c.507G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2296,
          "referenceAllele": "G",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.9:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Glu653Gln",
        "hgvsWellDefined": "ENSP00000329967.5:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000545392.1:n.132G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891853612",
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.3:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Glu653Gln",
        "hgvsWellDefined": "NP_037386.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268809.1:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268866.1:p.Glu653Gln",
        "hgvsWellDefined": "XP_005268866.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "referenceAllele": "G",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268810.1:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268867.1:p.Glu653Gln",
        "hgvsWellDefined": "XP_005268867.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_001748674.2:n.2179G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891853612",
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.4:c.1957G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Glu653Gln",
        "hgvsWellDefined": "NP_037386.1:p.Glu653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.1957G>C"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.1957G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Glu653Gln"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Glu653Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}