Revel Score:
ENST00000209873 (MANE Select)
0.920
ENST00000550286
0.920
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53314796G>A , CM000674.2:g.53314796G>A | GRCh38 |
| NC_000012.11:g.53708580G>A , CM000674.1:g.53708580G>A | GRCh37 |
| NC_000012.10:g.51994847G>A | NCBI36 |
| NG_016775.1:g.11833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.500C>T MANE Select | ENSP00000209873.4:p.Ala167Val | |
| ENST00000546393.7:n.1036C>T | ||
| ENST00000546562.6:n.1255C>T | ||
| ENST00000547238.6:n.1136C>T | ||
| ENST00000547520.6:n.494C>T | ||
| ENST00000547757.2:c.-407+298C>T | ENSP00000448020.2:n.-407+298C>T | |
| ENST00000548880.2:n.950C>T | ||
| ENST00000548931.6:c.20C>T | ENSP00000457518.1:p.Ala7Val | |
| ENST00000549450.6:n.434C>T | ||
| ENST00000552161.6:n.1456C>T | ||
| ENST00000672797.1:n.953C>T | ||
| ENST00000672900.1:n.989C>T | ||
| ENST00000209873.8:c.500C>T | ENSP00000209873.4:p.Ala167Val | |
| ENST00000394384.7:c.446+298C>T | ENSP00000377908.3:n.446+298C>T | |
| ENST00000546393.6:n.88C>T | ||
| ENST00000547238.5:n.893C>T | ||
| ENST00000547520.5:n.204C>T | ||
| ENST00000547757.1:c.446+298C>T | ENSP00000448020.1:n.446+298C>T | |
| ENST00000547761.6:n.392C>T | ||
| ENST00000548258.5:n.528C>T | ||
| ENST00000548931.5:c.20C>T | ENSP00000457518.1:p.Ala7Val | |
| ENST00000549450.5:n.494C>T | ||
| ENST00000549821.5:n.498C>T | ||
| ENST00000549983.5:n.523C>T | ||
| ENST00000550286.5:c.128C>T | ENSP00000446885.1:p.Ala43Val | |
| ENST00000551724.5:n.550C>T | ||
| ENST00000552876.5:n.888+298C>T | ||
| NM_001173466.1:c.446+298C>T | NP_001166937.1:n.446+298C>T | |
| NM_015665.5:c.500C>T | NP_056480.1:p.Ala167Val | |
| XM_006719617.2:c.515C>T | XP_006719680.1:p.Ala172Val | |
| XM_006719619.2:c.515C>T | XP_006719682.1:p.Ala172Val | |
| XM_011538777.1:c.515C>T | XP_011537079.1:p.Ala172Val | |
| XM_011538778.1:c.500C>T | XP_011537080.1:p.Ala167Val | |
| XM_011538779.1:c.461+298C>T | XP_011537081.1:n.461+298C>T | |
| XM_011538780.1:c.446+298C>T | XP_011537082.1:n.446+298C>T | |
| XM_011538778.2:c.500C>T | XP_011537080.1:p.Ala167Val | |
| XM_011538780.2:c.446+298C>T | XP_011537082.1:n.446+298C>T | |
| XR_001748875.2:n.566+298C>T | ||
| NM_015665.6:c.500C>T MANE Select | NP_056480.1:p.Ala167Val | |
| NM_001173466.2:c.446+298C>T | NP_001166937.1:n.446+298C>T |