Revel Score:
ENST00000311895 (MANE Select)
0.068
ENST00000389138
0.068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948237C>A , CM000678.2:g.13948237C>A | GRCh38 |
| NC_000016.9:g.14042094C>A , CM000678.1:g.14042094C>A | GRCh37 |
| NC_000016.8:g.13949595C>A | NCBI36 |
| NG_011442.1:g.33081C>A , LRG_463:g.33081C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2779C>A | ENSP00000507912.1:p.Gln927Lys | |
| ENST00000683962.1:c.*2335C>A | ENSP00000506854.1:n.*2335C>A | |
| ENST00000311895.8:c.2641C>A MANE Select | ENSP00000310520.7:p.Gln881Lys | |
| ENST00000311895.7:c.2641C>A | ENSP00000310520.7:p.Gln881Lys | |
| ENST00000389138.7:n.1918C>A | ||
| NM_005236.2:c.2641C>A , LRG_463t1:c.2641C>A | NP_005227.1:p.Gln881Lys | |
| XM_011522424.1:c.2779C>A | XP_011520726.1:p.Gln927Lys | |
| XM_011522425.1:c.2098C>A | XP_011520727.1:p.Gln700Lys | |
| XM_011522426.1:c.1852C>A | XP_011520728.1:p.Gln618Lys | |
| XM_011522427.1:c.1291C>A | XP_011520729.1:p.Gln431Lys | |
| XR_932805.1:n.2800C>A | ||
| XM_011522424.3:c.2779C>A | XP_011520726.1:p.Gln927Lys | |
| XM_017023043.2:c.1852C>A | XP_016878532.1:p.Gln618Lys | |
| NM_005236.3:c.2641C>A MANE Select | NP_005227.1:p.Gln881Lys |