{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2793981",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295348[alleleid]",
        "alleleId": 295348,
        "preferredName": "NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349310",
        "RCV": [
          "RCV000350373",
          "RCV000406027",
          "RCV000958533",
          "RCV003888830"
        ],
        "variationId": 349310
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-628493-G-A",
        "id": "4-628493-G-A",
        "variant": "4:628493 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.628493G>A?assembly=hg19",
        "id": "chr4:g.628493G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.634704G>A?assembly=hg38",
        "id": "chr4:g.634704G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/115775983",
        "rs": 115775983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-628493-G-A?dataset=gnomad_r2_1",
        "id": "4-628493-G-A",
        "variant": "4:628493 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-634704-G-A?dataset=gnomad_r3",
        "id": "4-634704-G-A",
        "variant": "4:634704 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-634704-G-A?dataset=gnomad_r4",
        "id": "4-634704-G-A",
        "variant": "4:634704 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 634704,
          "referenceAllele": "G",
          "start": 634703
        }
      ],
      "hgvs": [
        "NC_000004.12:g.634704G>A",
        "CM000666.2:g.634704G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 628493,
          "referenceAllele": "G",
          "start": 628492
        }
      ],
      "hgvs": [
        "NC_000004.11:g.628493G>A",
        "CM000666.1:g.628493G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 618493,
          "referenceAllele": "G",
          "start": 618492
        }
      ],
      "hgvs": [
        "NC_000004.10:g.618493G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14131,
          "referenceAllele": "G",
          "start": 14130
        }
      ],
      "hgvs": [
        "NG_009839.1:g.14131G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Glu166Lys",
        "hgvsWellDefined": "ENSP00000420295.1:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.496G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.496G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Glu166Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Glu166Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:p.Glu166Lys",
        "hgvsWellDefined": "ENSP00000255622.6:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Glu166Lys",
        "hgvsWellDefined": "ENSP00000420295.1:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494839",
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:p.Glu166Lys",
        "hgvsWellDefined": "NP_000274.2:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982590",
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:p.Glu166Lys",
        "hgvsWellDefined": "NP_001138763.1:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511775.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511776.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Glu166Lys",
        "hgvsWellDefined": "XP_011511777.1:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511778.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511775.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511776.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Glu166Lys",
        "hgvsWellDefined": "XP_011511777.1:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Glu239Lys",
        "hgvsWellDefined": "XP_011511778.1:p.Glu239Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139578",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:p.Glu166Lys",
        "hgvsWellDefined": "NP_000274.3:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.496G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.496G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Glu166Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Glu166Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066116",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.Glu166Lys",
        "hgvsWellDefined": "NP_001138763.2:p.Glu166Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    }
  ],
  "type": "nucleotide"
}