{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA241798",
  "communityStandardTitle": [
    "NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3934687",
        "active": true,
        "id": "COSM3934687"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21524[alleleid]",
        "alleleId": 21524,
        "preferredName": "NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6485",
        "RCV": [
          "RCV000006858",
          "RCV000175942",
          "RCV000377207",
          "RCV000724272"
        ],
        "variationId": 6485
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-35250910-G-A",
        "id": "1-35250910-G-A",
        "variant": "1:35250910 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.35250910G>A?assembly=hg19",
        "id": "chr1:g.35250910G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.34785309G>A?assembly=hg38",
        "id": "chr1:g.34785309G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315318",
        "rs": 74315318
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-35250910-G-A?dataset=gnomad_r2_1",
        "id": "1-35250910-G-A",
        "variant": "1:35250910 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-34785309-G-A?dataset=gnomad_r3",
        "id": "1-34785309-G-A",
        "variant": "1:34785309 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-34785309-G-A?dataset=gnomad_r4",
        "id": "1-34785309-G-A",
        "variant": "1:34785309 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 34785309,
          "referenceAllele": "G",
          "start": 34785308
        }
      ],
      "hgvs": [
        "NC_000001.11:g.34785309G>A",
        "CM000663.2:g.34785309G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 35250910,
          "referenceAllele": "G",
          "start": 35250909
        }
      ],
      "hgvs": [
        "NC_000001.10:g.35250910G>A",
        "CM000663.1:g.35250910G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 35023497,
          "referenceAllele": "G",
          "start": 35023496
        }
      ],
      "hgvs": [
        "NC_000001.9:g.35023497G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9121,
          "referenceAllele": "G",
          "start": 9120
        }
      ],
      "hgvs": [
        "NG_008309.1:g.9121G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373366.3:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362464.2:p.Glu183Lys",
        "hgvsWellDefined": "ENSP00000362464.2:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373366.3:c.547G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024009.3:c.547G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362464.2:p.Glu183Lys"
          },
          "RefSeq": {
            "hgvs": "NP_076872.1:p.Glu183Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373362.3:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362460.3:p.Glu183Lys",
        "hgvsWellDefined": "ENSP00000362460.3:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "ENST00000373366.2:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362464.2:p.Glu183Lys",
        "hgvsWellDefined": "ENSP00000362464.2:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 66899,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 66900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025154",
      "geneNCBI_id": 113444,
      "geneSymbol": "SMIM12",
      "hgvs": [
        "ENST00000426886.1:c.208-66900C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429902.1:n.208-66900C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112692",
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_001005752.1:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005752.1:p.Glu183Lys",
        "hgvsWellDefined": "NP_001005752.1:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007781"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_024009.2:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_076872.1:p.Glu183Lys",
        "hgvsWellDefined": "NP_076872.1:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 13062,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 13061
        }
      ],
      "hgvs": [
        "XR_947179.1:n.1001+13062C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "endIntronDirection": "+",
          "endIntronOffset": 13062,
          "referenceAllele": "C",
          "start": 1023,
          "startIntronDirection": "+",
          "startIntronOffset": 13061
        }
      ],
      "hgvs": [
        "XR_001737967.1:n.1023+13062C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241799",
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_024009.3:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_076872.1:p.Glu183Lys",
        "hgvsWellDefined": "NP_076872.1:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670568",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373366.3:c.547G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024009.3:c.547G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362464.2:p.Glu183Lys"
          },
          "RefSeq": {
            "hgvs": "NP_076872.1:p.Glu183Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA112692",
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NM_001005752.2:c.547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005752.1:p.Glu183Lys",
        "hgvsWellDefined": "NP_001005752.1:p.Glu183Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675213"
    }
  ],
  "type": "nucleotide"
}