{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA134995",
  "communityStandardTitle": [
    "NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53932[alleleid]",
        "alleleId": 53932,
        "preferredName": "NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44765",
        "RCV": [
          "RCV000037870",
          "RCV000710115",
          "RCV000666342",
          "RCV000763879"
        ],
        "variationId": 44765
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-20763051-T-G",
        "id": "13-20763051-T-G",
        "variant": "13:20763051 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20763051T>G?assembly=hg19",
        "id": "chr13:g.20763051T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.20188912T>G?assembly=hg38",
        "id": "chr13:g.20188912T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033194",
        "rs": 111033194
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20763051-T-G?dataset=gnomad_r2_1",
        "id": "13-20763051-T-G",
        "variant": "13:20763051 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20188912-T-G?dataset=gnomad_r3",
        "id": "13-20188912-T-G",
        "variant": "13:20188912 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-20188912-T-G?dataset=gnomad_r4",
        "id": "13-20188912-T-G",
        "variant": "13:20188912 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20188912,
          "referenceAllele": "T",
          "start": 20188911
        }
      ],
      "hgvs": [
        "NC_000013.11:g.20188912T>G",
        "CM000675.2:g.20188912T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 20763051,
          "referenceAllele": "T",
          "start": 20763050
        }
      ],
      "hgvs": [
        "NC_000013.10:g.20763051T>G",
        "CM000675.1:g.20763051T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 19661051,
          "referenceAllele": "T",
          "start": 19661050
        }
      ],
      "hgvs": [
        "NC_000013.9:g.19661051T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9064,
          "referenceAllele": "A",
          "start": 9063
        }
      ],
      "hgvs": [
        "NG_008358.1:g.9064A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001055"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "A",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.2:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Lys224Gln",
        "hgvsWellDefined": "ENSP00000372295.1:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.5:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Lys224Gln",
        "hgvsWellDefined": "ENSP00000372299.4:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.670A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.670A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Lys224Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Lys224Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "A",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382844.1:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372295.1:p.Lys224Gln",
        "hgvsWellDefined": "ENSP00000372295.1:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "ENST00000382848.4:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372299.4:p.Lys224Gln",
        "hgvsWellDefined": "ENSP00000372299.4:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA134996",
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "referenceAllele": "A",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.5:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Lys224Gln",
        "hgvsWellDefined": "NP_003995.2:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.1:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Lys224Gln",
        "hgvsWellDefined": "XP_011533351.1:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "XM_011535049.2:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533351.1:p.Lys224Gln",
        "hgvsWellDefined": "XP_011533351.1:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA134996",
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NM_004004.6:c.670A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003995.2:p.Lys224Gln",
        "hgvsWellDefined": "NP_003995.2:p.Lys224Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382848.5:c.670A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004004.6:c.670A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372299.4:p.Lys224Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003995.2:p.Lys224Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}