{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123235",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4985691"
      },
      {
        "active": false,
        "id": "COSM4985692"
      },
      {
        "active": false,
        "id": "COSM4985693"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28597[alleleid]",
        "alleleId": 28597,
        "preferredName": "NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13558",
        "RCV": [
          "RCV000014519",
          "RCV000246922",
          "RCV000383813",
          "RCV001799606",
          "RCV001517663"
        ],
        "variationId": 13558
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-45360730-T-C",
        "id": "17-45360730-T-C",
        "variant": "17:45360730 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45360730T>C?assembly=hg19",
        "id": "chr17:g.45360730T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47283364T>C?assembly=hg38",
        "id": "chr17:g.47283364T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5918",
        "rs": 5918
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-45360730-T-C?dataset=gnomad_r2_1",
        "id": "17-45360730-T-C",
        "variant": "17:45360730 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47283364-T-C?dataset=gnomad_r3",
        "id": "17-47283364-T-C",
        "variant": "17:47283364 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47283364-T-C?dataset=gnomad_r4",
        "id": "17-47283364-T-C",
        "variant": "17:47283364 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 47283364,
          "referenceAllele": "T",
          "start": 47283363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47283364T>C",
        "CM000679.2:g.47283364T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 45360730,
          "referenceAllele": "T",
          "start": 45360729
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45360730T>C",
        "CM000679.1:g.45360730T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42715729,
          "referenceAllele": "T",
          "start": 42715728
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42715729T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34523,
          "referenceAllele": "T",
          "start": 34522
        }
      ],
      "hgvs": [
        "NG_008332.2:g.34523T>C",
        "LRG_481:g.34523T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Leu59Pro",
        "hgvsWellDefined": "ENSP00000513002.1:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Leu59Pro",
        "hgvsWellDefined": "ENSP00000452786.2:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.176T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.176T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Leu59Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Leu59Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 192,
          "referenceAllele": "T",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Leu59Pro",
        "hgvsWellDefined": "ENSP00000452786.1:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "referenceAllele": "T",
          "start": 140
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.141T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "referenceAllele": "T",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:p.Leu59Pro",
        "hgvsWellDefined": "ENSP00000461626.1:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123237",
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "referenceAllele": "T",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.176T>C",
        "LRG_481t1:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Leu59Pro",
        "hgvsWellDefined": "NP_000203.2:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123237",
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Leu59Pro",
        "hgvsWellDefined": "NP_000203.2:p.Leu59Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.176T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.176T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Leu59Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Leu59Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}