Revel Score:
ENST00000436693
0.073
ENST00000381950
0.073
ENST00000508542
0.073
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01460735 (AFR)
Genomes Max Group AF
0.01360079 (AFR)
Exomes Max Group AF
0.01518391 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38828734C>T , CM000666.2:g.38828734C>T | GRCh38 |
| NC_000004.11:g.38830355C>T , CM000666.1:g.38830355C>T | GRCh37 |
| NC_000004.10:g.38506750C>T | NCBI36 |
| NG_028087.1:g.33084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381950.2:c.740G>A (TLR6) | ENSP00000371376.1:p.Arg247Lys | |
| ENST00000508254.6:c.740G>A (TLR6) MANE Select | ENSP00000424718.2:p.Arg247Lys | |
| ENST00000381950.1:c.740G>A (TLR6) | ENSP00000371376.1:p.Arg247Lys | |
| ENST00000436693.6:c.740G>A (TLR6) | ENSP00000389600.2:p.Arg247Lys | |
| ENST00000506146.5:c.-352-23541G>A (TLR1) | ENSP00000423725.1:n.-352-23541G>A | |
| ENST00000610323.2:c.740G>A (TLR6) | ENSP00000480266.1:p.Arg247Lys | |
| NM_006068.4:c.740G>A (TLR6) | NP_006059.2:p.Arg247Lys | |
| XM_005262637.3:c.740G>A (TLR6) | XP_005262694.1:p.Arg247Lys | |
| XM_011513612.1:c.740G>A (TLR6) | XP_011511914.1:p.Arg247Lys | |
| XM_011513613.1:c.740G>A (TLR6) | XP_011511915.1:p.Arg247Lys | |
| XM_011513614.1:c.740G>A (TLR6) | XP_011511916.1:p.Arg247Lys | |
| XM_005262637.5:c.740G>A (TLR6) | XP_005262694.1:p.Arg247Lys | |
| XM_011513613.3:c.740G>A (TLR6) | XP_011511915.1:p.Arg247Lys | |
| XM_011513614.3:c.740G>A (TLR6) | XP_011511916.1:p.Arg247Lys | |
| XM_024453873.1:c.740G>A (TLR6) | XP_024309641.1:p.Arg247Lys | |
| NM_006068.5:c.740G>A (TLR6) MANE Select | NP_006059.2:p.Arg247Lys | |
| NM_001394553.1:c.740G>A (TLR6) | NP_001381482.1:p.Arg247Lys |