{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2889942",
  "communityStandardTitle": [
    "NM_006068.5(TLR6):c.581T>C (p.Leu194Pro)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-38830514-A-G",
        "id": "4-38830514-A-G",
        "variant": "4:38830514 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.38830514A>G?assembly=hg19",
        "id": "chr4:g.38830514A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.38828893A>G?assembly=hg38",
        "id": "chr4:g.38828893A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5743809",
        "rs": 5743809
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38830514-A-G?dataset=gnomad_r2_1",
        "id": "4-38830514-A-G",
        "variant": "4:38830514 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38828893-A-G?dataset=gnomad_r3",
        "id": "4-38828893-A-G",
        "variant": "4:38828893 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38828893-A-G?dataset=gnomad_r4",
        "id": "4-38828893-A-G",
        "variant": "4:38828893 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38828893,
          "referenceAllele": "A",
          "start": 38828892
        }
      ],
      "hgvs": [
        "NC_000004.12:g.38828893A>G",
        "CM000666.2:g.38828893A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38830514,
          "referenceAllele": "A",
          "start": 38830513
        }
      ],
      "hgvs": [
        "NC_000004.11:g.38830514A>G",
        "CM000666.1:g.38830514A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38506909,
          "referenceAllele": "A",
          "start": 38506908
        }
      ],
      "hgvs": [
        "NC_000004.10:g.38506909A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32925,
          "referenceAllele": "T",
          "start": 32924
        }
      ],
      "hgvs": [
        "NG_028087.1:g.32925T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004067"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "ENST00000381950.2:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371376.1:p.Leu194Pro",
        "hgvsWellDefined": "ENSP00000371376.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "ENST00000508254.6:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424718.2:p.Leu194Pro",
        "hgvsWellDefined": "ENSP00000424718.2:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905518",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000508254.6:c.581T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006068.5:c.581T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424718.2:p.Leu194Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006059.2:p.Leu194Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "T",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "ENST00000381950.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371376.1:p.Leu194Pro",
        "hgvsWellDefined": "ENSP00000371376.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "ENST00000436693.6:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389600.2:p.Leu194Pro",
        "hgvsWellDefined": "ENSP00000389600.2:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 23699,
          "referenceAllele": "T",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 23700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000506146.5:c.-352-23700T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423725.1:n.-352-23700T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "ENST00000610323.2:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480266.1:p.Leu194Pro",
        "hgvsWellDefined": "ENSP00000480266.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874649",
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "NM_006068.4:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006059.2:p.Leu194Pro",
        "hgvsWellDefined": "NP_006059.2:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_005262637.3:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262694.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_005262694.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_011513612.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511914.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_011511914.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_011513613.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511915.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_011511915.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "referenceAllele": "T",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_011513614.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511916.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_011511916.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_005262637.5:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262694.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_005262694.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "referenceAllele": "T",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_011513613.3:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511915.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_011511915.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "T",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_011513614.3:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511916.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_011511916.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "T",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "XM_024453873.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309641.1:p.Leu194Pro",
        "hgvsWellDefined": "XP_024309641.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874649",
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "NM_006068.5:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006059.2:p.Leu194Pro",
        "hgvsWellDefined": "NP_006059.2:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000508254.6:c.581T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006068.5:c.581T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424718.2:p.Leu194Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006059.2:p.Leu194Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016711",
      "geneNCBI_id": 10333,
      "geneSymbol": "TLR6",
      "hgvs": [
        "NM_001394553.1:c.581T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381482.1:p.Leu194Pro",
        "hgvsWellDefined": "NP_001381482.1:p.Leu194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782226"
    }
  ],
  "type": "nucleotide"
}