{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7537771",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.3693+1G>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5657078",
        "active": true,
        "id": "COSM5657078"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056230[alleleid]",
        "alleleId": 1056230,
        "preferredName": "NM_001363711.2(DUOX2):c.3693+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065943",
        "RCV": [
          "RCV001376797",
          "RCV003485711"
        ],
        "variationId": 1065943
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45389811-C-A",
        "id": "15-45389811-C-A",
        "variant": "15:45389811 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45389811C>A?assembly=hg19",
        "id": "chr15:g.45389811C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45097613C>A?assembly=hg38",
        "id": "chr15:g.45097613C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200717240",
        "rs": 200717240
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45389811-C-A?dataset=gnomad_r2_1",
        "id": "15-45389811-C-A",
        "variant": "15:45389811 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45097613-C-A?dataset=gnomad_r3",
        "id": "15-45097613-C-A",
        "variant": "15:45097613 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45097613-C-A?dataset=gnomad_r4",
        "id": "15-45097613-C-A",
        "variant": "15:45097613 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45097613,
          "referenceAllele": "C",
          "start": 45097612
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45097613C>A",
        "CM000677.2:g.45097613C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45389811,
          "referenceAllele": "C",
          "start": 45389810
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45389811C>A",
        "CM000677.1:g.45389811C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43177103,
          "referenceAllele": "C",
          "start": 43177102
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43177103C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21549,
          "referenceAllele": "G",
          "start": 21548
        }
      ],
      "hgvs": [
        "NG_009447.1:g.21549G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3907,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.11:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.7:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3693+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3693+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:n.3693+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:n.3693+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4079,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4079,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.10:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.6:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000603300.1:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475084.1:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.4:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "XM_005254421.2:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254478.1:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.1:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3907,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3693+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3693+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:n.3693+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:n.3693+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3907,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.3693+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:n.3693+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}