Revel Score:
ENST00000526927
0.303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65546850C>T , CM000673.2:g.65546850C>T | GRCh38 |
| NC_000011.9:g.65314321C>T , CM000673.1:g.65314321C>T | GRCh37 |
| NC_000011.8:g.65070897C>T | NCBI36 |
| NG_016437.1:g.16379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*1441G>A | ENSP00000435146.2:n.*1441G>A | |
| ENST00000526927.6:c.1323G>A | ENSP00000431219.2:p.Lys441= | |
| ENST00000530866.6:c.1911G>A | ENSP00000435276.2:p.Lys637= | |
| ENST00000685178.1:n.1850G>A | ||
| ENST00000688764.1:n.701G>A | ||
| ENST00000689505.1:c.2055G>A | ENSP00000510401.1:p.Lys685= | |
| ENST00000301873.11:c.2178G>A MANE Select | ENSP00000301873.5:p.Lys726= | |
| ENST00000301873.9:c.2178G>A | ENSP00000301873.5:p.Lys726= | |
| ENST00000322147.8:c.2178G>A | ENSP00000326647.4:p.Lys726= | |
| ENST00000526927.5:c.1129G>A | ||
| ENST00000527339.1:c.198G>A | ENSP00000432121.1:p.Lys66= | |
| ENST00000528516.5:c.*1823G>A | ENSP00000432350.1:n.*1823G>A | |
| ENST00000530866.5:c.1911G>A | ENSP00000435276.1:p.Lys637= | |
| ENST00000532932.5:c.468G>A | ENSP00000435530.1:p.Lys156= | |
| ENST00000536982.5:c.-814G>A | ENSP00000441912.2:n.-814G>A | |
| NM_001130144.2:c.2178G>A | NP_001123616.1:p.Lys726= | |
| NM_001164266.1:c.1827G>A | NP_001157738.1:p.Lys609= | |
| NM_021070.4:c.2178G>A | NP_066548.2:p.Lys726= | |
| XM_011545032.1:c.2205G>A | XP_011543334.1:p.Lys735= | |
| XM_011545033.1:c.2205G>A | XP_011543335.1:p.Lys735= | |
| XR_949928.1:n.2605G>A | ||
| XM_011545032.2:c.2205G>A | XP_011543334.1:p.Lys735= | |
| XM_011545033.3:c.2205G>A | XP_011543335.1:p.Lys735= | |
| XM_017017737.2:c.2205G>A | XP_016873226.1:p.Lys735= | |
| XR_001747875.2:n.2628G>A | ||
| XR_949928.3:n.2628G>A | ||
| NM_001130144.3:c.2178G>A MANE Select | NP_001123616.1:p.Lys726= |