Revel Score:
ENST00000311895 (MANE Select)
0.030
ENST00000389138
0.030
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Genomes Max Group AF
0.00005288 (AMR)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948229C>T , CM000678.2:g.13948229C>T | GRCh38 |
| NC_000016.9:g.14042086C>T , CM000678.1:g.14042086C>T | GRCh37 |
| NC_000016.8:g.13949587C>T | NCBI36 |
| NG_011442.1:g.33073C>T , LRG_463:g.33073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2771C>T | ENSP00000507912.1:p.Ala924Val | |
| ENST00000683962.1:c.*2327C>T | ENSP00000506854.1:n.*2327C>T | |
| ENST00000311895.8:c.2633C>T MANE Select | ENSP00000310520.7:p.Ala878Val | |
| ENST00000311895.7:c.2633C>T | ENSP00000310520.7:p.Ala878Val | |
| ENST00000389138.7:n.1910C>T | ||
| NM_005236.2:c.2633C>T , LRG_463t1:c.2633C>T | NP_005227.1:p.Ala878Val | |
| XM_011522424.1:c.2771C>T | XP_011520726.1:p.Ala924Val | |
| XM_011522425.1:c.2090C>T | XP_011520727.1:p.Ala697Val | |
| XM_011522426.1:c.1844C>T | XP_011520728.1:p.Ala615Val | |
| XM_011522427.1:c.1283C>T | XP_011520729.1:p.Ala428Val | |
| XR_932805.1:n.2792C>T | ||
| XM_011522424.3:c.2771C>T | XP_011520726.1:p.Ala924Val | |
| XM_017023043.2:c.1844C>T | XP_016878532.1:p.Ala615Val | |
| NM_005236.3:c.2633C>T MANE Select | NP_005227.1:p.Ala878Val |