Revel Score:
ENST00000382292 (MANE Select)
0.533
ENST00000402364
0.533
ENST00000382298
0.533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333962C>G , CM000675.2:g.23333962C>G | GRCh38 |
| NC_000013.10:g.23908101C>G , CM000675.1:g.23908101C>G | GRCh37 |
| NC_000013.9:g.22806101C>G | NCBI36 |
| NG_012342.1:g.104741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19823G>C | ENSP00000508399.1:n.2185+19823G>C | |
| ENST00000682944.1:c.9941G>C | ENSP00000507173.1:p.Ser3314Thr | |
| ENST00000683210.1:c.2185+19823G>C | ENSP00000506739.1:n.2185+19823G>C | |
| ENST00000683270.1:c.6445+3460G>C | ENSP00000507624.1:n.6445+3460G>C | |
| ENST00000683367.1:c.2177-4478G>C | ENSP00000507780.1:n.2177-4478G>C | |
| ENST00000683489.1:c.2292-4010G>C | ENSP00000508403.1:n.2292-4010G>C | |
| ENST00000683680.1:c.2319-4010G>C | ENSP00000507223.1:n.2319-4010G>C | |
| ENST00000684163.1:c.2204-4478G>C | ENSP00000508262.1:n.2204-4478G>C | |
| ENST00000684196.1:n.4543-4478G>C | ||
| ENST00000684325.1:c.2186-12288G>C | ENSP00000508121.1:n.2186-12288G>C | |
| ENST00000684385.1:c.2221-4478G>C | ENSP00000507855.1:n.2221-4478G>C | |
| ENST00000684497.1:c.2186-11318G>C | ENSP00000507057.1:n.2186-11318G>C | |
| ENST00000382292.9:c.9914G>C MANE Select | ENSP00000371729.3:p.Ser3305Thr | |
| ENST00000423156.2:c.2186-4478G>C | ENSP00000390925.2:n.2186-4478G>C | |
| ENST00000455470.6:c.2432-4478G>C | ENSP00000406565.2:n.2432-4478G>C | |
| ENST00000382292.7:c.9914G>C | ENSP00000371729.3:p.Ser3305Thr | |
| ENST00000382298.7:c.9914G>C | ENSP00000371735.3:p.Ser3305Thr | |
| ENST00000402364.1:c.7664G>C | ENSP00000385844.1:p.Ser2555Thr | |
| ENST00000423156.1:c.1058-4478G>C | ENSP00000390925.1:n.1058-4478G>C | |
| ENST00000455470.5:c.2130-4478G>C | ||
| NM_001278055.1:c.9473G>C | NP_001264984.1:p.Ser3158Thr | |
| NM_014363.5:c.9914G>C | NP_055178.3:p.Ser3305Thr | |
| XM_005266338.1:c.9941G>C | XP_005266395.1:p.Ser3314Thr | |
| XM_011535038.1:c.9965G>C | XP_011533340.1:p.Ser3322Thr | |
| XM_011535039.1:c.9932G>C | XP_011533341.1:p.Ser3311Thr | |
| XM_005266338.2:c.9941G>C | XP_005266395.1:p.Ser3314Thr | |
| XM_011535039.2:c.9932G>C | XP_011533341.1:p.Ser3311Thr | |
| XM_017020539.1:c.9905G>C | XP_016876028.1:p.Ser3302Thr | |
| XM_024449337.1:c.9941G>C | XP_024305105.1:p.Ser3314Thr | |
| NM_014363.6:c.9914G>C MANE Select | NP_055178.3:p.Ser3305Thr | |
| NM_001278055.2:c.9473G>C | NP_001264984.1:p.Ser3158Thr |