{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA238276382",
  "communityStandardTitle": [
    "NM_013254.4(TBK1):c.1792A>G (p.Met598Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=505020[alleleid]",
        "alleleId": 505020,
        "preferredName": "NM_013254.4(TBK1):c.1792A>G (p.Met598Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/516884",
        "RCV": [
          "RCV000614658",
          "RCV000687975"
        ],
        "variationId": 516884
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64890760A>G?assembly=hg19",
        "id": "chr12:g.64890760A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.64496980A>G?assembly=hg38",
        "id": "chr12:g.64496980A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/899858451",
        "rs": 899858451
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64890760-A-G?dataset=gnomad_r2_1",
        "id": "12-64890760-A-G",
        "variant": "12:64890760 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64496980-A-G?dataset=gnomad_r3",
        "id": "12-64496980-A-G",
        "variant": "12:64496980 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-64496980-A-G?dataset=gnomad_r4",
        "id": "12-64496980-A-G",
        "variant": "12:64496980 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 64496980,
          "referenceAllele": "A",
          "start": 64496979
        }
      ],
      "hgvs": [
        "NC_000012.12:g.64496980A>G",
        "CM000674.2:g.64496980A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 64890760,
          "referenceAllele": "A",
          "start": 64890759
        }
      ],
      "hgvs": [
        "NC_000012.11:g.64890760A>G",
        "CM000674.1:g.64890760A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 63177027,
          "referenceAllele": "A",
          "start": 63177026
        }
      ],
      "hgvs": [
        "NC_000012.10:g.63177027A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49921,
          "referenceAllele": "A",
          "start": 49920
        }
      ],
      "hgvs": [
        "NG_046906.1:g.49921A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1891,
          "referenceAllele": "A",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.10:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Met598Val",
        "hgvsWellDefined": "ENSP00000329967.5:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.1792A>G"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.1792A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Met598Val"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Met598Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000545392.2:n.698A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "A",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650708.1:c.1833A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650762.1:c.1534A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498758.1:p.Met512Val",
        "hgvsWellDefined": "ENSP00000498758.1:p.Met512Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650786.1:c.*1937A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498280.1:n.*1937A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1934,
          "referenceAllele": "A",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650790.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498995.1:p.Met598Val",
        "hgvsWellDefined": "ENSP00000498995.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1891,
          "referenceAllele": "A",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000650997.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498341.1:p.Met598Val",
        "hgvsWellDefined": "ENSP00000498341.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1980,
          "referenceAllele": "A",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651014.1:c.1636A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498885.1:p.Met546Val",
        "hgvsWellDefined": "ENSP00000498885.1:p.Met546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "A",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651262.1:c.*59A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498461.1:n.*59A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000651878.1:c.*1276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499077.1:n.*1276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "A",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652537.1:c.*172A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499102.1:n.*172A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000652657.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498887.1:p.Met598Val",
        "hgvsWellDefined": "ENSP00000498887.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676521.1:c.266A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503000.1:n.266A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 4349,
          "referenceAllele": "A",
          "start": 79,
          "startIntronDirection": "-",
          "startIntronOffset": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676587.1:c.80-4350A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1921,
          "referenceAllele": "A",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676654.1:n.1921A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2512,
          "referenceAllele": "A",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676684.1:n.2512A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "A",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676809.1:c.*481A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504298.1:n.*481A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "A",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676912.1:c.1636A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503567.1:p.Met546Val",
        "hgvsWellDefined": "ENSP00000503567.1:p.Met546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1532,
          "referenceAllele": "A",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000676930.1:c.1444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502899.1:p.Met482Val",
        "hgvsWellDefined": "ENSP00000502899.1:p.Met482Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "A",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677499.1:c.*172A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502875.1:n.*172A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677632.1:c.1777A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504586.1:p.Met593Val",
        "hgvsWellDefined": "ENSP00000504586.1:p.Met593Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "A",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677641.1:c.1789A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504637.1:p.Met597Val",
        "hgvsWellDefined": "ENSP00000504637.1:p.Met597Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4861,
          "referenceAllele": "A",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677686.1:n.4861A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1877,
          "referenceAllele": "A",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000677831.1:c.*172A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503760.1:n.*172A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "A",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678180.1:c.1690A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504132.1:p.Met564Val",
        "hgvsWellDefined": "ENSP00000504132.1:p.Met564Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "A",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678197.1:n.1775A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000678567.1:c.342A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "ENST00000331710.9:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329967.5:p.Met598Val",
        "hgvsWellDefined": "ENSP00000329967.5:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806246",
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "A",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.3:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Met598Val",
        "hgvsWellDefined": "NP_037386.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "A",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268809.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268866.1:p.Met598Val",
        "hgvsWellDefined": "XP_005268866.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "A",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XM_005268810.1:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268867.1:p.Met598Val",
        "hgvsWellDefined": "XP_005268867.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_944524.1:n.2059A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "XR_001748674.2:n.2014A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806246",
      "coordinates": [
        {
          "allele": "G",
          "end": 1891,
          "referenceAllele": "A",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011584",
      "geneNCBI_id": 29110,
      "geneSymbol": "TBK1",
      "hgvs": [
        "NM_013254.4:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037386.1:p.Met598Val",
        "hgvsWellDefined": "NP_037386.1:p.Met598Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331710.10:c.1792A>G"
          },
          "RefSeq": {
            "hgvs": "NM_013254.4:c.1792A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329967.5:p.Met598Val"
          },
          "RefSeq": {
            "hgvs": "NP_037386.1:p.Met598Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}