Revel Score:
ENST00000311895 (MANE Select)
0.716
ENST00000389138
0.716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947664G>A , CM000678.2:g.13947664G>A | GRCh38 |
| NC_000016.9:g.14041521G>A , CM000678.1:g.14041521G>A | GRCh37 |
| NC_000016.8:g.13949022G>A | NCBI36 |
| NG_011442.1:g.32508G>A , LRG_463:g.32508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2206G>A | ENSP00000507912.1:p.Glu736Lys | |
| ENST00000683962.1:c.*1762G>A | ENSP00000506854.1:n.*1762G>A | |
| ENST00000311895.8:c.2068G>A MANE Select | ENSP00000310520.7:p.Glu690Lys | |
| ENST00000311895.7:c.2068G>A | ENSP00000310520.7:p.Glu690Lys | |
| ENST00000389138.7:n.1345G>A | ||
| ENST00000462862.1:c.381G>A | ENSP00000461322.1:n.381G>A | |
| NM_005236.2:c.2068G>A , LRG_463t1:c.2068G>A | NP_005227.1:p.Glu690Lys | |
| XM_011522424.1:c.2206G>A | XP_011520726.1:p.Glu736Lys | |
| XM_011522425.1:c.1525G>A | XP_011520727.1:p.Glu509Lys | |
| XM_011522426.1:c.1279G>A | XP_011520728.1:p.Glu427Lys | |
| XM_011522427.1:c.718G>A | XP_011520729.1:p.Glu240Lys | |
| XR_932805.1:n.2227G>A | ||
| XM_011522424.3:c.2206G>A | XP_011520726.1:p.Glu736Lys | |
| XM_017023043.2:c.1279G>A | XP_016878532.1:p.Glu427Lys | |
| NM_005236.3:c.2068G>A MANE Select | NP_005227.1:p.Glu690Lys |