{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127030",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32066[alleleid]",
        "alleleId": 32066,
        "preferredName": "NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17027",
        "RCV": [
          "RCV000018554",
          "RCV000018555",
          "RCV000211764",
          "RCV000254728",
          "RCV000210858",
          "RCV001257038",
          "RCV001291331"
        ],
        "variationId": 17027
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20763497C>T?assembly=hg19",
        "id": "chr13:g.20763497C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20189358C>T?assembly=hg38",
        "id": "chr13:g.20189358C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28931593",
        "rs": 28931593
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20189358-C-T?dataset=gnomad_r3",
        "id": "13-20189358-C-T",
        "variant": "13:20189358 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20189358-C-T?dataset=gnomad_r4",
        "id": "13-20189358-C-T",
        "variant": "13:20189358 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 20189358,
          "referenceAllele": "C",
          "start": 20189357
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20189358C>T",
        "CM000675.2:g.20189358C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 20763497,
          "referenceAllele": "C",
          "start": 20763496
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20763497C>T",
        "CM000675.1:g.20763497C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 19661497,
          "referenceAllele": "C",
          "start": 19661496
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19661497C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8618,
          "referenceAllele": "G",
          "start": 8617
        }
      ],
      "hgvs": [
        "NG_008358.1:g.8618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.2:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Arg75Gln",
        "hgvsWellDefined": "ENSP00000372295.1:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Arg75Gln",
        "hgvsWellDefined": "ENSP00000372299.4:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.224G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.224G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Arg75Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Arg75Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.1:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Arg75Gln",
        "hgvsWellDefined": "ENSP00000372295.1:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Arg75Gln",
        "hgvsWellDefined": "ENSP00000372299.4:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113160",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Arg75Gln",
        "hgvsWellDefined": "NP_003995.2:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.1:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Arg75Gln",
        "hgvsWellDefined": "XP_011533351.1:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.2:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Arg75Gln",
        "hgvsWellDefined": "XP_011533351.1:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113160",
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.224G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Arg75Gln",
        "hgvsWellDefined": "NP_003995.2:p.Arg75Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.224G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.224G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Arg75Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Arg75Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}