{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413934026",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.577G>A (p.Glu193Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1315069",
        "active": true,
        "id": "COSM1315069"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100617172C>T?assembly=hg19",
        "id": "chrX:g.100617172C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101362184C>T?assembly=hg38",
        "id": "chrX:g.101362184C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555978783",
        "rs": 1555978783
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101362184,
          "referenceAllele": "C",
          "start": 101362183
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101362184C>T",
        "CM000685.2:g.101362184C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100617172,
          "referenceAllele": "C",
          "start": 100617171
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100617172C>T",
        "CM000685.1:g.100617172C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100503828,
          "referenceAllele": "C",
          "start": 100503827
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100503828C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29041,
          "referenceAllele": "G",
          "start": 29040
        }
      ],
      "hgvs": [
        "NG_009616.1:g.29041G>A",
        "LRG_128:g.29041G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000464006.2:n.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.735G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512053.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512054.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*422G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.574G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Glu192Lys",
        "hgvsWellDefined": "ENSP00000512056.1:p.Glu192Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*326G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*422G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*422G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512061.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512062.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512063.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512064.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000512057.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000308176.8:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Glu193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Glu193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000308176.7:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000361971.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000479125.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Glu227Lys",
        "hgvsWellDefined": "ENSP00000483570.1:p.Glu227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063548205",
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.577G>A",
        "LRG_128t1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Glu193Lys",
        "hgvsWellDefined": "NP_000052.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Glu227Lys",
        "hgvsWellDefined": "NP_001274273.1:p.Glu227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Glu193Lys",
        "hgvsWellDefined": "NP_001274274.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063548205",
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Glu193Lys",
        "hgvsWellDefined": "NP_000052.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Glu193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Glu193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Glu227Lys",
        "hgvsWellDefined": "NP_001274273.1:p.Glu227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Glu193Lys",
        "hgvsWellDefined": "NP_001274274.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}