Revel Score:
ENST00000218032 (MANE Select)
0.015
ENST00000311912
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000164 (NFE)
Exomes Max Group AF
0.00000111 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12919685C>G , CM000685.2:g.12919685C>G | GRCh38 |
| NC_000023.10:g.12937804C>G , CM000685.1:g.12937804C>G | GRCh37 |
| NC_000023.9:g.12847725C>G | NCBI36 |
| NG_012882.2:g.18066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218032.7:c.645C>G (TLR8) MANE Select | ENSP00000218032.7:p.His215Gln | |
| ENST00000218032.6:c.645C>G (TLR8) | ENSP00000218032.6:p.His215Gln | |
| ENST00000311912.5:c.699C>G (TLR8) | ENSP00000312082.5:p.His233Gln | |
| NM_016610.3:c.699C>G (TLR8) | NP_057694.2:p.His233Gln | |
| NM_138636.5:c.645C>G (TLR8) MANE Select | NP_619542.1:p.His215Gln | |
| NR_030727.1:n.241-11352G>C (TLR8-AS1) | ||
| XM_011545529.1:c.699C>G (TLR8) | XP_011543831.1:p.His233Gln | |
| XM_011545530.1:c.699C>G (TLR8) | XP_011543832.1:p.His233Gln | |
| XM_011545530.2:c.699C>G (TLR8) | XP_011543832.1:p.His233Gln | |
| NM_016610.4:c.699C>G (TLR8) | NP_057694.2:p.His233Gln |