{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12582597",
  "communityStandardTitle": [
    "NM_002214.3(ITGB8):c.128-5353T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.20397907T>C?assembly=hg19",
        "id": "chr7:g.20397907T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.20358284T>C?assembly=hg38",
        "id": "chr7:g.20358284T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10251386",
        "rs": 10251386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-20397907-T-C?dataset=gnomad_r2_1",
        "id": "7-20397907-T-C",
        "variant": "7:20397907 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-20358284-T-C?dataset=gnomad_r3",
        "id": "7-20358284-T-C",
        "variant": "7:20358284 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-20358284-T-C?dataset=gnomad_r4",
        "id": "7-20358284-T-C",
        "variant": "7:20358284 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 20358284,
          "referenceAllele": "T",
          "start": 20358283
        }
      ],
      "hgvs": [
        "NC_000007.14:g.20358284T>C",
        "CM000669.2:g.20358284T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 20397907,
          "referenceAllele": "T",
          "start": 20397906
        }
      ],
      "hgvs": [
        "NC_000007.13:g.20397907T>C",
        "CM000669.1:g.20397907T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 20364432,
          "referenceAllele": "T",
          "start": 20364431
        }
      ],
      "hgvs": [
        "NC_000007.12:g.20364432T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 1034,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "ENST00000222573.5:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222573.3:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222573.5:c.128-5353T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002214.3:c.128-5353T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222573.3:n.128-5353T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002205.1:n.128-5353T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "ENST00000222573.4:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222573.3:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "ENST00000478974.1:n.833-5353T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "ENST00000537992.5:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441561.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "NM_002214.2:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002205.1:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 4582,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515392.1:c.104-4583T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513694.1:n.104-4583T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515393.1:c.104-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513695.1:n.104-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 245,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 245,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515394.1:c.95-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513696.1:n.95-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 298,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515395.1:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513697.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515396.1:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513698.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515393.2:c.104-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513695.1:n.104-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 233,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_011515394.2:c.95-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513696.1:n.95-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012178.1:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867667.1:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 988,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 988,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012179.1:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867668.1:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "endIntronDirection": "+",
          "endIntronOffset": 2262,
          "referenceAllele": "T",
          "start": 1281,
          "startIntronDirection": "+",
          "startIntronOffset": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012180.1:c.-279+2262T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867669.1:n.-279+2262T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 1100,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012181.1:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867670.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012182.1:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867671.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "XM_017012183.1:c.-278-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867672.1:n.-278-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "endIntronDirection": "-",
          "endIntronOffset": 5352,
          "referenceAllele": "T",
          "start": 1034,
          "startIntronDirection": "-",
          "startIntronOffset": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006163",
      "geneNCBI_id": 3696,
      "geneSymbol": "ITGB8",
      "hgvs": [
        "NM_002214.3:c.128-5353T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002205.1:n.128-5353T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222573.5:c.128-5353T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002214.3:c.128-5353T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222573.3:n.128-5353T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002205.1:n.128-5353T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}