{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400024376",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2476333[alleleid]",
        "alleleId": 2476333,
        "preferredName": "NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498356",
        "RCV": [
          "RCV003222565",
          "RCV003561240"
        ],
        "variationId": 2498356
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45364450G>A?assembly=hg19",
        "id": "chr17:g.45364450G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47287084G>A?assembly=hg38",
        "id": "chr17:g.47287084G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1442321434",
        "rs": 1442321434
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-45364450-G-A?dataset=gnomad_r2_1",
        "id": "17-45364450-G-A",
        "variant": "17:45364450 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47287084-G-A?dataset=gnomad_r4",
        "id": "17-47287084-G-A",
        "variant": "17:47287084 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 47287084,
          "referenceAllele": "G",
          "start": 47287083
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47287084G>A",
        "CM000679.2:g.47287084G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45364450,
          "referenceAllele": "G",
          "start": 45364449
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45364450G>A",
        "CM000679.1:g.45364450G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42719449,
          "referenceAllele": "G",
          "start": 42719448
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42719449G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38243,
          "referenceAllele": "G",
          "start": 38242
        }
      ],
      "hgvs": [
        "NG_008332.2:g.38243G>A",
        "LRG_481:g.38243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Trp264Ter",
        "hgvsWellDefined": "ENSP00000513002.1:p.Trp264_Val780delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrValArgAspGlyAlaGlyArgPheLeuLysSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Trp264Ter",
        "hgvsWellDefined": "ENSP00000452786.2:p.Trp264_Thr788delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.792G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.792G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Trp264Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Trp264Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Trp264Ter",
        "hgvsWellDefined": "ENSP00000452786.1:p.Trp264_Thr788delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.757G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:p.Trp264Ter",
        "hgvsWellDefined": "ENSP00000461626.1:p.Trp264_Leu443delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValArgTrpAlaGlyGlnGlyLeuCysProGlyAlaSerValGlyThrGlnProProPhePheLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580107677",
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.792G>A",
        "LRG_481t1:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Trp264Ter",
        "hgvsWellDefined": "NP_000203.2:p.Trp264_Thr788delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580107677",
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Trp264Ter",
        "hgvsWellDefined": "NP_000203.2:p.Trp264_Thr788delinsArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.792G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.792G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Trp264Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Trp264Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}