{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1035137636",
  "communityStandardTitle": [
    "NM_000576.3(IL1B):c.597+316T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1143642",
        "rs": 1143642
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-112830976-A-T?dataset=gnomad_r3",
        "id": "2-112830976-A-T",
        "variant": "2:112830976 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-112830976-A-T?dataset=gnomad_r4",
        "id": "2-112830976-A-T",
        "variant": "2:112830976 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 112830976,
          "referenceAllele": "A",
          "start": 112830975
        }
      ],
      "hgvs": [
        "NC_000002.12:g.112830976A>T",
        "CM000664.2:g.112830976A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113588553,
          "referenceAllele": "A",
          "start": 113588552
        }
      ],
      "hgvs": [
        "NC_000002.11:g.113588553A>T",
        "CM000664.1:g.113588553A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113305024,
          "referenceAllele": "A",
          "start": 113305023
        }
      ],
      "hgvs": [
        "NC_000002.10:g.113305024A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10804,
          "referenceAllele": "T",
          "start": 10803
        }
      ],
      "hgvs": [
        "NG_008851.1:g.10804T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001247"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000263341.7:c.597+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263341.2:n.597+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263341.7:c.597+316T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000576.3:c.597+316T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263341.2:n.597+316T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000567.1:n.597+316T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000263341.6:c.597+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263341.2:n.597+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 1404,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000491056.5:n.1404+316T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "NM_000576.2:c.597+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000567.1:n.597+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "XM_006712496.1:c.363+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712559.1:n.363+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 686,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "XM_017003988.2:c.504+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859477.1:n.504+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "NM_000576.3:c.597+316T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000567.1:n.597+316T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674897",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263341.7:c.597+316T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000576.3:c.597+316T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263341.2:n.597+316T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000567.1:n.597+316T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}