{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118408",
  "communityStandardTitle": [
    "NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21701[alleleid]",
        "alleleId": 21701,
        "preferredName": "NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6662",
        "RCV": [
          "RCV000007044",
          "RCV000647016",
          "RCV000826059",
          "RCV002496289"
        ],
        "variationId": 6662
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-187004500-C-T",
        "id": "4-187004500-C-T",
        "variant": "4:187004500 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187004500C>T?assembly=hg19",
        "id": "chr4:g.187004500C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186083346C>T?assembly=hg38",
        "id": "chr4:g.186083346C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434431",
        "rs": 121434431
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187004500-C-T?dataset=gnomad_r2_1",
        "id": "4-187004500-C-T",
        "variant": "4:187004500 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186083346-C-T?dataset=gnomad_r3",
        "id": "4-186083346-C-T",
        "variant": "4:186083346 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186083346-C-T?dataset=gnomad_r4",
        "id": "4-186083346-C-T",
        "variant": "4:186083346 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 186083346,
          "referenceAllele": "C",
          "start": 186083345
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186083346C>T",
        "CM000666.2:g.186083346C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187004500,
          "referenceAllele": "C",
          "start": 187004499
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187004500C>T",
        "CM000666.1:g.187004500C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187241494,
          "referenceAllele": "C",
          "start": 187241493
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187241494C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19192,
          "referenceAllele": "C",
          "start": 19191
        }
      ],
      "hgvs": [
        "NG_007278.1:g.19192C>T",
        "LRG_117:g.19192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000526"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000508051.2:c.829C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513677.1:p.Pro277Ser",
        "hgvsWellDefined": "ENSP00000513677.1:p.Pro277Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1209,
          "endIntronDirection": "+",
          "endIntronOffset": 796,
          "referenceAllele": "C",
          "start": 1209,
          "startIntronDirection": "+",
          "startIntronOffset": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698351.1:c.864+796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513674.1:n.864+796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698352.1:c.*1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513675.1:n.*1212C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698353.1:n.1535C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000698354.1:c.829C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513676.1:p.Pro277Ser",
        "hgvsWellDefined": "ENSP00000513676.1:p.Pro277Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000296795.8:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296795.3:p.Pro554Ser",
        "hgvsWellDefined": "ENSP00000296795.3:p.Pro554Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296795.8:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003265.3:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296795.3:p.Pro554Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003256.1:p.Pro554Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000296795.7:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296795.2:p.Pro554Ser",
        "hgvsWellDefined": "ENSP00000296795.2:p.Pro554Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000504367.1:c.829C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423684.1:p.Pro277Ser",
        "hgvsWellDefined": "ENSP00000423684.1:p.Pro277Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "ENST00000512264.1:n.1736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109948",
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "NM_003265.2:c.1660C>T",
        "LRG_117t1:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003256.1:p.Pro554Ser",
        "hgvsWellDefined": "NP_003256.1:p.Pro554Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109948",
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011849",
      "geneNCBI_id": 7098,
      "geneSymbol": "TLR3",
      "hgvs": [
        "NM_003265.3:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003256.1:p.Pro554Ser",
        "hgvsWellDefined": "NP_003256.1:p.Pro554Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296795.8:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003265.3:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296795.3:p.Pro554Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003256.1:p.Pro554Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}