{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1381055",
  "communityStandardTitle": [
    "NM_001164688.2(RD3):c.498C>T (p.Ile166=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268154[alleleid]",
        "alleleId": 268154,
        "preferredName": "NM_001164688.2(RD3):c.498C>T (p.Ile166=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283917",
        "RCV": [
          "RCV000302722",
          "RCV001446128",
          "RCV003955457"
        ],
        "variationId": 283917
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-211652468-G-A",
        "id": "1-211652468-G-A",
        "variant": "1:211652468 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.211652468G>A?assembly=hg19",
        "id": "chr1:g.211652468G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.211479126G>A?assembly=hg38",
        "id": "chr1:g.211479126G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779584830",
        "rs": 779584830
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-211652468-G-A?dataset=gnomad_r2_1",
        "id": "1-211652468-G-A",
        "variant": "1:211652468 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-211479126-G-A?dataset=gnomad_r3",
        "id": "1-211479126-G-A",
        "variant": "1:211479126 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-211479126-G-A?dataset=gnomad_r4",
        "id": "1-211479126-G-A",
        "variant": "1:211479126 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 211479126,
          "referenceAllele": "G",
          "start": 211479125
        }
      ],
      "hgvs": [
        "NC_000001.11:g.211479126G>A",
        "CM000663.2:g.211479126G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 211652468,
          "referenceAllele": "G",
          "start": 211652467
        }
      ],
      "hgvs": [
        "NC_000001.10:g.211652468G>A",
        "CM000663.1:g.211652468G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209719091,
          "referenceAllele": "G",
          "start": 209719090
        }
      ],
      "hgvs": [
        "NC_000001.9:g.209719091G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18792,
          "referenceAllele": "C",
          "start": 18791
        }
      ],
      "hgvs": [
        "NG_013042.1:g.18792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002686"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000367002.5:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355969.4:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000680073.1:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505312.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779694",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680073.1:c.498C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164688.2:c.498C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505312.1:p.Ile166="
          },
          "RefSeq": {
            "hgvs": "NP_001158160.1:p.Ile166="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000367002.4:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355969.4:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "C",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "ENST00000484910.1:n.466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000497",
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_001164688.1:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158160.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830409408",
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_183059.2:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898882.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "XM_011509479.1:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507781.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "XM_017001151.1:c.534C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856640.1:p.Ile178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830409408",
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_183059.3:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898882.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000497",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019689",
      "geneNCBI_id": 343035,
      "geneSymbol": "RD3",
      "hgvs": [
        "NM_001164688.2:c.498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158160.1:p.Ile166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713116",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680073.1:c.498C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164688.2:c.498C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505312.1:p.Ile166="
          },
          "RefSeq": {
            "hgvs": "NP_001158160.1:p.Ile166="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}