{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413919436",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2901961[alleleid]",
        "alleleId": 2901961,
        "preferredName": "NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2737284",
        "RCV": [
          "RCV003513679"
        ],
        "variationId": 2737284
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100608310C>G?assembly=hg19",
        "id": "chrX:g.100608310C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101353322C>G?assembly=hg38",
        "id": "chrX:g.101353322C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555977339",
        "rs": 1555977339
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 101353322,
          "referenceAllele": "C",
          "start": 101353321
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101353322C>G",
        "CM000685.2:g.101353322C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100608310,
          "referenceAllele": "C",
          "start": 100608309
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100608310C>G",
        "CM000685.1:g.100608310C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 100494966,
          "referenceAllele": "C",
          "start": 100494965
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100494966C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37903,
          "referenceAllele": "G",
          "start": 37902
        }
      ],
      "hgvs": [
        "NG_009616.1:g.37903G>C",
        "LRG_128:g.37903G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "hgvs": [
        "NG_011734.1:g.648G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001937"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3297,
          "referenceAllele": "G",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.3297G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "G",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.3936G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000512053.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000512054.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*1625G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*1625G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.1777G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Gly593Arg",
        "hgvsWellDefined": "ENSP00000512056.1:p.Gly593Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*1529G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*1529G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1796,
          "referenceAllele": "G",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*1490G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*1490G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*1706G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*1706G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.*205G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:n.*205G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1869,
          "referenceAllele": "G",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.1717G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Gly573Arg",
        "hgvsWellDefined": "ENSP00000512062.1:p.Gly573Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Gly592Arg",
        "hgvsWellDefined": "ENSP00000512063.1:p.Gly592Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695624.1:n.1085G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000512064.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695626.1:c.535G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512065.1:n.535G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695627.1:c.728G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512066.1:n.728G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695628.1:c.339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512067.1:n.339G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695629.1:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512068.1:p.Gly74Arg",
        "hgvsWellDefined": "ENSP00000512068.1:p.Gly74Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695630.1:c.507G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695631.1:c.115-74G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.1252G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Gly418Arg",
        "hgvsWellDefined": "ENSP00000512057.1:p.Gly418Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000308176.8:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1780G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1780G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Gly594Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Gly594Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000308176.7:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "G",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.1252G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Gly418Arg",
        "hgvsWellDefined": "ENSP00000361971.1:p.Gly418Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "G",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000470069.1:n.145G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.1:n.382G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "G",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.1779G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:n.1779G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "G",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1882G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Gly628Arg",
        "hgvsWellDefined": "ENSP00000483570.1:p.Gly628Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094081",
      "coordinates": [
        {
          "allele": "C",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1780G>C",
        "LRG_128t1:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Gly594Arg",
        "hgvsWellDefined": "NP_000052.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "G",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1882G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Gly628Arg",
        "hgvsWellDefined": "NP_001274273.1:p.Gly628Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742854",
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "G",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1252G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Gly418Arg",
        "hgvsWellDefined": "NP_001274274.1:p.Gly418Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094081",
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Gly594Arg",
        "hgvsWellDefined": "NP_000052.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1780G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1780G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Gly594Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Gly594Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016800",
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "referenceAllele": "G",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1882G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Gly628Arg",
        "hgvsWellDefined": "NP_001274273.1:p.Gly628Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742854",
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1252G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Gly418Arg",
        "hgvsWellDefined": "NP_001274274.1:p.Gly418Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}