Revel Score:
ENST00000382292 (MANE Select)
0.891
ENST00000402364
0.891
ENST00000382298
0.891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23339017G>C , CM000675.2:g.23339017G>C | GRCh38 |
| NC_000013.10:g.23913156G>C , CM000675.1:g.23913156G>C | GRCh37 |
| NC_000013.9:g.22811156G>C | NCBI36 |
| NG_012342.1:g.99686C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+14768C>G | ENSP00000508399.1:n.2185+14768C>G | |
| ENST00000682944.1:c.4886C>G | ENSP00000507173.1:p.Pro1629Arg | |
| ENST00000683210.1:c.2185+14768C>G | ENSP00000506739.1:n.2185+14768C>G | |
| ENST00000683270.1:c.4850C>G | ENSP00000507624.1:p.Pro1617Arg | |
| ENST00000683367.1:c.2177-9533C>G | ENSP00000507780.1:n.2177-9533C>G | |
| ENST00000683489.1:c.2291+2568C>G | ENSP00000508403.1:n.2291+2568C>G | |
| ENST00000683680.1:c.2318+2568C>G | ENSP00000507223.1:n.2318+2568C>G | |
| ENST00000684163.1:c.2203+7794C>G | ENSP00000508262.1:n.2203+7794C>G | |
| ENST00000684196.1:n.4543-9533C>G | ||
| ENST00000684325.1:c.2185+14768C>G | ENSP00000508121.1:n.2185+14768C>G | |
| ENST00000684385.1:c.2220+7794C>G | ENSP00000507855.1:n.2220+7794C>G | |
| ENST00000684497.1:c.2185+14768C>G | ENSP00000507057.1:n.2185+14768C>G | |
| ENST00000382292.9:c.4859C>G MANE Select | ENSP00000371729.3:p.Pro1620Arg | |
| ENST00000423156.2:c.2186-9533C>G | ENSP00000390925.2:n.2186-9533C>G | |
| ENST00000455470.6:c.2431+2428C>G | ENSP00000406565.2:n.2431+2428C>G | |
| ENST00000382292.7:c.4859C>G | ENSP00000371729.3:p.Pro1620Arg | |
| ENST00000382298.7:c.4859C>G | ENSP00000371735.3:p.Pro1620Arg | |
| ENST00000402364.1:c.2609C>G | ENSP00000385844.1:p.Pro870Arg | |
| ENST00000423156.1:c.1058-9533C>G | ENSP00000390925.1:n.1058-9533C>G | |
| ENST00000455470.5:c.2129+2428C>G | ||
| NM_001278055.1:c.4418C>G | NP_001264984.1:p.Pro1473Arg | |
| NM_014363.5:c.4859C>G | NP_055178.3:p.Pro1620Arg | |
| XM_005266338.1:c.4886C>G | XP_005266395.1:p.Pro1629Arg | |
| XM_011535038.1:c.4910C>G | XP_011533340.1:p.Pro1637Arg | |
| XM_011535039.1:c.4877C>G | XP_011533341.1:p.Pro1626Arg | |
| XM_005266338.2:c.4886C>G | XP_005266395.1:p.Pro1629Arg | |
| XM_011535039.2:c.4877C>G | XP_011533341.1:p.Pro1626Arg | |
| XM_017020539.1:c.4850C>G | XP_016876028.1:p.Pro1617Arg | |
| XM_024449337.1:c.4886C>G | XP_024305105.1:p.Pro1629Arg | |
| NM_014363.6:c.4859C>G MANE Select | NP_055178.3:p.Pro1620Arg | |
| NM_001278055.2:c.4418C>G | NP_001264984.1:p.Pro1473Arg |