{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4612899",
  "communityStandardTitle": [
    "NM_005218.4(DEFB1):c.-20G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN168267"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-6735399-C-T",
        "id": "8-6735399-C-T",
        "variant": "8:6735399 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6735399C>T?assembly=hg19",
        "id": "chr8:g.6735399C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6877877C>T?assembly=hg38",
        "id": "chr8:g.6877877C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11362",
        "rs": 11362
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6735399-C-T?dataset=gnomad_r2_1",
        "id": "8-6735399-C-T",
        "variant": "8:6735399 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6877877-C-T?dataset=gnomad_r3",
        "id": "8-6877877-C-T",
        "variant": "8:6877877 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6877877-C-T?dataset=gnomad_r4",
        "id": "8-6877877-C-T",
        "variant": "8:6877877 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6877877,
          "referenceAllele": "C",
          "start": 6877876
        }
      ],
      "hgvs": [
        "NC_000008.11:g.6877877C>T",
        "CM000670.2:g.6877877C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6735399,
          "referenceAllele": "C",
          "start": 6735398
        }
      ],
      "hgvs": [
        "NC_000008.10:g.6735399C>T",
        "CM000670.1:g.6735399C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6722809,
          "referenceAllele": "C",
          "start": 6722808
        }
      ],
      "hgvs": [
        "NC_000008.9:g.6722809C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002766",
      "geneNCBI_id": 1672,
      "geneSymbol": "DEFB1",
      "hgvs": [
        "ENST00000297439.4:c.-20G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297439.3:n.-20G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297439.4:c.-20G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005218.4:c.-20G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297439.3:n.-20G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005209.1:n.-20G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002766",
      "geneNCBI_id": 1672,
      "geneSymbol": "DEFB1",
      "hgvs": [
        "ENST00000297439.3:c.-20G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297439.3:n.-20G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002766",
      "geneNCBI_id": 1672,
      "geneSymbol": "DEFB1",
      "hgvs": [
        "NM_005218.3:c.-20G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005209.1:n.-20G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002766",
      "geneNCBI_id": 1672,
      "geneSymbol": "DEFB1",
      "hgvs": [
        "NM_005218.4:c.-20G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005209.1:n.-20G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297439.4:c.-20G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005218.4:c.-20G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297439.3:n.-20G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005209.1:n.-20G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}