{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA327993585",
  "communityStandardTitle": [
    "NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2875516[alleleid]",
        "alleleId": 2875516,
        "preferredName": "NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2713218",
        "RCV": [
          "RCV003510817"
        ],
        "variationId": 2713218
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.39933575G>C?assembly=hg19",
        "id": "chrX:g.39933575G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.40074322G>C?assembly=hg38",
        "id": "chrX:g.40074322G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151177114",
        "rs": 151177114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-39933575-G-C?dataset=gnomad_r2_1",
        "id": "X-39933575-G-C",
        "variant": "X:39933575 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-40074322-G-C?dataset=gnomad_r3",
        "id": "X-40074322-G-C",
        "variant": "X:40074322 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-40074322-G-C?dataset=gnomad_r4",
        "id": "X-40074322-G-C",
        "variant": "X:40074322 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 40074322,
          "referenceAllele": "G",
          "start": 40074321
        }
      ],
      "hgvs": [
        "NC_000023.11:g.40074322G>C",
        "CM000685.2:g.40074322G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 39933575,
          "referenceAllele": "G",
          "start": 39933574
        }
      ],
      "hgvs": [
        "NC_000023.10:g.39933575G>C",
        "CM000685.1:g.39933575G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 39818519,
          "referenceAllele": "G",
          "start": 39818518
        }
      ],
      "hgvs": [
        "NC_000023.9:g.39818519G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108008,
          "referenceAllele": "C",
          "start": 108007
        }
      ],
      "hgvs": [
        "NG_008880.1:g.108008C>G",
        "LRG_627:g.108008C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001275"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.9:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000367705.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.1024C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.1024C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Arg342Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Arg342Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000406200.4:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384485.3:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000384485.3:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000413905.6:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408006.2:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000408006.2:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000427012.3:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403823.3:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000403823.3:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000442018.6:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387552.2:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000387552.2:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000615339.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483217.2:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000483217.2:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000672922.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499892.2:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000499892.2:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000673391.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500446.1:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000500446.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000679513.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505761.1:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000505761.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000680831.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505507.1:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000505507.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000342274.8:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345923.4:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000345923.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.8:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000367705.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378455.8:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367716.4:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000367716.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000397354.7:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380512.3:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000380512.3:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000406200.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384485.2:p.Arg342Gly",
        "hgvsWellDefined": "ENSP00000384485.2:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000490976.5:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 776,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000615339.1:c.22-777C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483217.1:n.22-777C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590352",
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123383.1:c.1024C>G",
        "LRG_627t1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116855.1:p.Arg342Gly",
        "hgvsWellDefined": "NP_001116855.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825591130",
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Arg342Gly",
        "hgvsWellDefined": "NP_001116856.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825591805",
      "coordinates": [
        {
          "allele": "G",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.1:c.1024C>G",
        "LRG_627t2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Arg342Gly",
        "hgvsWellDefined": "NP_001116857.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741963783",
      "coordinates": [
        {
          "allele": "G",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.5:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Arg342Gly",
        "hgvsWellDefined": "NP_060215.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272616.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272673.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272673.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272675.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "C",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.3:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272676.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "C",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.3:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272677.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_006724599.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_011542231.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543930.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542232.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_011542232.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_011542233.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.3:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272675.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.4:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272676.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.4:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_005272677.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.3:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_006724599.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_011542231.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_011542233.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029615.1:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885104.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_016885104.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029616.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885105.1:p.Arg342Gly",
        "hgvsWellDefined": "XP_016885105.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825591130",
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Arg342Gly",
        "hgvsWellDefined": "NP_001116856.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825591805",
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.2:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Arg342Gly",
        "hgvsWellDefined": "NP_001116857.1:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.1024C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.1024C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Arg342Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Arg342Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741963783",
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.6:c.1024C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Arg342Gly",
        "hgvsWellDefined": "NP_060215.4:p.Arg342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697865"
    }
  ],
  "type": "nucleotide"
}