{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123246",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1563792",
        "active": true,
        "id": "COSM1563792"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1563793",
        "active": true,
        "id": "COSM1563793"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3518524",
        "active": true,
        "id": "COSM3518524"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28603[alleleid]",
        "alleleId": 28603,
        "preferredName": "NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13564",
        "RCV": [
          "RCV001335177",
          "RCV001374371",
          "RCV002243644",
          "RCV003128571",
          "RCV000014532"
        ],
        "variationId": 13564
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-45384950-C-T",
        "id": "17-45384950-C-T",
        "variant": "17:45384950 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45384950C>T?assembly=hg19",
        "id": "chr17:g.45384950C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47307584C>T?assembly=hg38",
        "id": "chr17:g.47307584C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918450",
        "rs": 121918450
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-45384950-C-T?dataset=gnomad_r2_1",
        "id": "17-45384950-C-T",
        "variant": "17:45384950 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47307584-C-T?dataset=gnomad_r3",
        "id": "17-47307584-C-T",
        "variant": "17:47307584 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47307584-C-T?dataset=gnomad_r4",
        "id": "17-47307584-C-T",
        "variant": "17:47307584 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 47307584,
          "referenceAllele": "C",
          "start": 47307583
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47307584C>T",
        "CM000679.2:g.47307584C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45384950,
          "referenceAllele": "C",
          "start": 45384949
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45384950C>T",
        "CM000679.1:g.45384950C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42739949,
          "referenceAllele": "C",
          "start": 42739948
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42739949C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58743,
          "referenceAllele": "C",
          "start": 58742
        }
      ],
      "hgvs": [
        "NG_008332.2:g.58743C>T",
        "LRG_481:g.58743C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "C",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Arg750Ter",
        "hgvsWellDefined": "ENSP00000513002.1:p.Arg750_Val780delinsLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrValArgAspGlyAlaGlyArgPheLeuLysSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "C",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Arg750Ter",
        "hgvsWellDefined": "ENSP00000452786.2:p.Arg750_Thr788delinsLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.2248C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.2248C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg750Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg750Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "referenceAllele": "C",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Arg750Ter",
        "hgvsWellDefined": "ENSP00000452786.1:p.Arg750_Thr788delinsLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2213,
          "referenceAllele": "C",
          "start": 2212
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.2213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123248",
      "coordinates": [
        {
          "allele": "T",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.2248C>T",
        "LRG_481t1:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg750Ter",
        "hgvsWellDefined": "NP_000203.2:p.Arg750_Thr788delinsLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 3801,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110880.1:n.363-3802G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 3801,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110881.1:n.227-3802G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123248",
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "C",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.2248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg750Ter",
        "hgvsWellDefined": "NP_000203.2:p.Arg750_Thr788delinsLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.2248C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.2248C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg750Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg750Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}