Revel Score:
ENST00000433211 (MANE Select)
0.740
ENST00000373744
0.740
ENST00000545309
0.740
ENST00000330298
0.740
ENST00000540598
0.740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67606868A>T , CM000672.2:g.67606868A>T | GRCh38 |
| NC_000010.10:g.69366626A>T , CM000672.1:g.69366626A>T | GRCh37 |
| NC_000010.9:g.69036632A>T | NCBI36 |
| NG_034072.1:g.94324T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545309.3:c.99+40547T>A | ENSP00000441444.3:n.99+40547T>A | |
| ENST00000682166.1:c.99+40547T>A | ENSP00000507319.1:n.99+40547T>A | |
| ENST00000682505.1:n.472T>A | ||
| ENST00000682758.1:c.281T>A | ENSP00000508047.1:p.Val94Asp | |
| ENST00000682945.1:c.281T>A | ENSP00000506843.1:p.Val94Asp | |
| ENST00000683272.1:n.475T>A | ||
| ENST00000683624.1:c.99+40547T>A | ENSP00000507406.1:n.99+40547T>A | |
| ENST00000683630.1:n.475T>A | ||
| ENST00000683963.1:c.281T>A | ENSP00000507029.1:p.Val94Asp | |
| ENST00000684154.1:c.281T>A | ENSP00000508371.1:p.Val94Asp | |
| ENST00000433211.7:c.281T>A MANE Select | ENSP00000389714.1:p.Val94Asp | |
| ENST00000330298.6:c.281T>A | ENSP00000330570.5:p.Val94Asp | |
| ENST00000433211.6:c.281T>A | ENSP00000389714.1:p.Val94Asp | |
| NM_001127384.2:c.281T>A | NP_001120856.1:p.Val94Asp | |
| NM_001291133.1:c.317T>A | NP_001278062.1:p.Val106Asp | |
| NM_013266.3:c.281T>A | NP_037398.2:p.Val94Asp | |
| XM_005269717.2:c.317T>A | XP_005269774.1:p.Val106Asp | |
| XM_011539721.1:c.317T>A | XP_011538023.1:p.Val106Asp | |
| XM_011539722.1:c.317T>A | XP_011538024.1:p.Val106Asp | |
| XM_011539723.1:c.281T>A | XP_011538025.1:p.Val94Asp | |
| XM_011539724.1:c.281T>A | XP_011538026.1:p.Val94Asp | |
| XM_011539725.1:c.281T>A | XP_011538027.1:p.Val94Asp | |
| XM_011539726.1:c.317T>A | XP_011538028.1:p.Val106Asp | |
| XM_011539727.1:c.281T>A | XP_011538029.1:p.Val94Asp | |
| XM_017016151.1:c.281T>A | XP_016871640.1:p.Val94Asp | |
| XM_017016152.1:c.317T>A | XP_016871641.1:p.Val106Asp | |
| XM_017016153.1:c.317T>A | XP_016871642.1:p.Val106Asp | |
| XM_017016158.2:c.317T>A | XP_016871647.1:p.Val106Asp | |
| NM_013266.4:c.281T>A MANE Select | NP_037398.2:p.Val94Asp | |
| NM_001291133.2:c.317T>A | NP_001278062.1:p.Val106Asp | |
| NM_001127384.3:c.281T>A | NP_001120856.1:p.Val94Asp |