COSMIC:
COSM3759356 (not active)
Revel Score:
ENST00000218032 (MANE Select)
0.109
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78464692 (EAS)
Genomes Max Group AF
0.7818635 (EAS)
Exomes Max Group AF
0.78219658 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12906707A>G , CM000685.2:g.12906707A>G | GRCh38 |
| NC_000023.10:g.12924826A>G , CM000685.1:g.12924826A>G | GRCh37 |
| NC_000023.9:g.12834747A>G | NCBI36 |
| NG_012882.2:g.5088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218032.7:c.1A>G (TLR8) MANE Select | ENSP00000218032.7:p.Met1Val | |
| ENST00000218032.6:c.1A>G (TLR8) | ENSP00000218032.6:p.Met1Val | |
| ENST00000311912.5:c.-83A>G (TLR8) | ENSP00000312082.5:n.-83A>G | |
| NM_016610.3:c.-83A>G (TLR8) | NP_057694.2:n.-83A>G | |
| NM_138636.5:c.1A>G (TLR8) MANE Select | NP_619542.1:p.Met1Val | |
| NR_030727.1:n.359-456T>C (TLR8-AS1) | ||
| XM_011545529.1:c.-238A>G (TLR8) | XP_011543831.1:n.-238A>G | |
| XM_011545530.1:c.-65A>G (TLR8) | XP_011543832.1:n.-65A>G | |
| XM_011545530.2:c.-65A>G (TLR8) | XP_011543832.1:n.-65A>G | |
| NM_016610.4:c.-83A>G (TLR8) | NP_057694.2:n.-83A>G |