{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400029436",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=980430",
        "active": true,
        "id": "COSM980430"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1588946",
        "active": true,
        "id": "COSM1588946"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2476327[alleleid]",
        "alleleId": 2476327,
        "preferredName": "NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498350",
        "RCV": [
          "RCV003222559"
        ],
        "variationId": 2498350
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45369720G>A?assembly=hg19",
        "id": "chr17:g.45369720G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47292354G>A?assembly=hg38",
        "id": "chr17:g.47292354G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143113385",
        "rs": 2143113385
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 47292354,
          "referenceAllele": "G",
          "start": 47292353
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47292354G>A",
        "CM000679.2:g.47292354G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45369720,
          "referenceAllele": "G",
          "start": 45369719
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45369720G>A",
        "CM000679.1:g.45369720G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42724719,
          "referenceAllele": "G",
          "start": 42724718
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42724719G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43513,
          "referenceAllele": "G",
          "start": 43512
        }
      ],
      "hgvs": [
        "NG_008332.2:g.43513G>A",
        "LRG_481:g.43513G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Trp492Ter",
        "hgvsWellDefined": "ENSP00000513002.1:p.Trp492_Val780delinsLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrValArgAspGlyAlaGlyArgPheLeuLysSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Trp492Ter",
        "hgvsWellDefined": "ENSP00000452786.2:p.Trp492_Thr788delinsLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.1476G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.1476G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Trp492Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Trp492Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Trp492Ter",
        "hgvsWellDefined": "ENSP00000452786.1:p.Trp492_Thr788delinsLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "referenceAllele": "G",
          "start": 1440
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.1441G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580107727",
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.1476G>A",
        "LRG_481t1:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Trp492Ter",
        "hgvsWellDefined": "NP_000203.2:p.Trp492_Thr788delinsLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580107727",
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Trp492Ter",
        "hgvsWellDefined": "NP_000203.2:p.Trp492_Thr788delinsLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.1476G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.1476G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Trp492Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Trp492Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}