{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400034232",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.2231T>A (p.Leu744His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45384933T>A?assembly=hg19",
        "id": "chr17:g.45384933T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47307567T>A?assembly=hg38",
        "id": "chr17:g.47307567T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122374",
        "rs": 398122374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-45384933-T-A?dataset=gnomad_r2_1",
        "id": "17-45384933-T-A",
        "variant": "17:45384933 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47307567-T-A?dataset=gnomad_r4",
        "id": "17-47307567-T-A",
        "variant": "17:47307567 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 47307567,
          "referenceAllele": "T",
          "start": 47307566
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47307567T>A",
        "CM000679.2:g.47307567T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45384933,
          "referenceAllele": "T",
          "start": 45384932
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45384933T>A",
        "CM000679.1:g.45384933T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42739932,
          "referenceAllele": "T",
          "start": 42739931
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42739932T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58726,
          "referenceAllele": "T",
          "start": 58725
        }
      ],
      "hgvs": [
        "NG_008332.2:g.58726T>A",
        "LRG_481:g.58726T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "T",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.2231T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Leu744His",
        "hgvsWellDefined": "ENSP00000513002.1:p.Leu744His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "T",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.2231T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Leu744His",
        "hgvsWellDefined": "ENSP00000452786.2:p.Leu744His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.2231T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.2231T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Leu744His"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Leu744His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "T",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.2231T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Leu744His",
        "hgvsWellDefined": "ENSP00000452786.1:p.Leu744His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "referenceAllele": "T",
          "start": 2195
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.2196T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084099172",
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "T",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.2231T>A",
        "LRG_481t1:c.2231T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Leu744His",
        "hgvsWellDefined": "NP_000203.2:p.Leu744His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 3784,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110880.1:n.363-3785A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 3784,
          "referenceAllele": "A",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110881.1:n.227-3785A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084099172",
      "coordinates": [
        {
          "allele": "A",
          "end": 2266,
          "referenceAllele": "T",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.2231T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Leu744His",
        "hgvsWellDefined": "NP_000203.2:p.Leu744His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.2231T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.2231T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Leu744His"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Leu744His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}