{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4630559",
  "communityStandardTitle": [
    "NM_001715.3(BLK):c.*338T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27359[alleleid]",
        "alleleId": 27359,
        "preferredName": "NM_001715.3(BLK):c.*338T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12320",
        "RCV": [
          "RCV000013113",
          "RCV002247331"
        ],
        "variationId": 12320
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-11421955-T-G",
        "id": "8-11421955-T-G",
        "variant": "8:11421955 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11421955T>G?assembly=hg19",
        "id": "chr8:g.11421955T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11564446T>G?assembly=hg38",
        "id": "chr8:g.11564446T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042695",
        "rs": 1042695
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-11421955-T-G?dataset=gnomad_r2_1",
        "id": "8-11421955-T-G",
        "variant": "8:11421955 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-11564446-T-G?dataset=gnomad_r3",
        "id": "8-11564446-T-G",
        "variant": "8:11564446 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-11564446-T-G?dataset=gnomad_r4",
        "id": "8-11564446-T-G",
        "variant": "8:11564446 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11564446,
          "referenceAllele": "T",
          "start": 11564445
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11564446T>G",
        "CM000670.2:g.11564446T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11421955,
          "referenceAllele": "T",
          "start": 11421954
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11421955T>G",
        "CM000670.1:g.11421955T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11459364,
          "referenceAllele": "T",
          "start": 11459363
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11459364T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75435,
          "referenceAllele": "T",
          "start": 75434
        }
      ],
      "hgvs": [
        "NG_023543.1:g.75435T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75435,
          "referenceAllele": "T",
          "start": 75434
        }
      ],
      "hgvs": [
        "NG_023543.2:g.75435T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "referenceAllele": "T",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.2:n.1964T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "referenceAllele": "T",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.1:c.*1174T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512445.1:n.*1174T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.9:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.*338T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.*338T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:n.*338T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:n.*338T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2007,
          "referenceAllele": "T",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000645242.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494690.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.8:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1796,
          "referenceAllele": "T",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000526097.1:n.1796T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1935,
          "referenceAllele": "T",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000529894.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433663.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2437,
          "referenceAllele": "T",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.2:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2536,
          "referenceAllele": "T",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543824.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542126.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2307,
          "referenceAllele": "T",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543825.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542127.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543826.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542128.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2412,
          "referenceAllele": "T",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543827.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542129.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2333,
          "referenceAllele": "T",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.1:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "T",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543825.3:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542127.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.3:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665131",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.*338T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.*338T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:n.*338T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:n.*338T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.2:c.*338T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:n.*338T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686957"
    }
  ],
  "type": "nucleotide"
}