Revel Score:
ENST00000542879
0.146
ENST00000537225
0.146
ENST00000361642
0.146
ENST00000546250
0.146
ENST00000542815
0.146
ENST00000320985
0.146
ENST00000437844
0.146
ENST00000541037
0.146
ENST00000543514
0.146
ENST00000446923
0.146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.31520308C>G , CM000672.2:g.31520308C>G | GRCh38 |
| NC_000010.10:g.31809236C>G , CM000672.1:g.31809236C>G | GRCh37 |
| NC_000010.9:g.31849242C>G | NCBI36 |
| NG_017048.1:g.206136C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424869.6:c.976C>G MANE Select | ENSP00000415961.2:p.Arg326Gly | |
| ENST00000446923.7:c.925C>G | ENSP00000391612.2:p.Arg309Gly | |
| ENST00000320985.14:c.973C>G | ENSP00000319248.9:p.Arg325Gly | |
| ENST00000361642.9:c.976C>G | ENSP00000354487.5:p.Arg326Gly | |
| ENST00000437844.6:c.*1113C>G | ENSP00000405958.3:n.*1113C>G | |
| ENST00000446923.6:c.925C>G | ENSP00000391612.2:p.Arg309Gly | |
| ENST00000488625.6:n.1686C>G | ||
| ENST00000542815.7:c.772C>G | ENSP00000444891.2:p.Arg258Gly | |
| ENST00000542879.5:n.1231C>G | ||
| ENST00000558440.5:c.751C>G | ENSP00000453970.1:p.Arg251Gly | |
| ENST00000558655.5:n.1070C>G | ||
| ENST00000558863.5:n.852C>G | ||
| ENST00000559858.5:n.1042C>G | ||
| ENST00000560721.6:c.913C>G | ENSP00000452787.1:p.Arg305Gly | |
| ENST00000561212.5:c.319C>G | ENSP00000453559.3:p.Arg107Gly | |
| NM_001128128.2:c.925C>G | NP_001121600.1:p.Arg309Gly | |
| NM_001174093.1:c.913C>G | NP_001167564.1:p.Arg305Gly | |
| NM_001174094.1:c.922C>G | NP_001167565.1:p.Arg308Gly | |
| NM_001174095.1:c.772C>G | NP_001167566.1:p.Arg258Gly | |
| NM_001174096.1:c.976C>G | NP_001167567.1:p.Arg326Gly | |
| NM_030751.5:c.973C>G | NP_110378.3:p.Arg325Gly | |
| XM_005252576.1:c.319C>G | XP_005252633.1:p.Arg107Gly | |
| XM_006717497.1:c.319C>G | XP_006717560.1:p.Arg107Gly | |
| XM_006717498.1:c.319C>G | XP_006717561.1:p.Arg107Gly | |
| XM_011519641.1:c.319C>G | XP_011517943.1:p.Arg107Gly | |
| XM_011519642.1:c.319C>G | XP_011517944.1:p.Arg107Gly | |
| XM_011519643.1:c.319C>G | XP_011517945.1:p.Arg107Gly | |
| XM_011519644.1:c.319C>G | XP_011517946.1:p.Arg107Gly | |
| XM_011519645.1:c.319C>G | XP_011517947.1:p.Arg107Gly | |
| XM_011519646.1:c.319C>G | XP_011517948.1:p.Arg107Gly | |
| XM_011519647.1:c.319C>G | XP_011517949.1:p.Arg107Gly | |
| XM_011519648.1:c.319C>G | XP_011517950.1:p.Arg107Gly | |
| NM_001323638.1:c.319C>G | NP_001310567.1:p.Arg107Gly | |
| NM_001323641.1:c.319C>G | NP_001310570.1:p.Arg107Gly | |
| NM_001323642.1:c.319C>G | NP_001310571.1:p.Arg107Gly | |
| NM_001323643.1:c.319C>G | NP_001310572.1:p.Arg107Gly | |
| NM_001323644.1:c.319C>G | NP_001310573.1:p.Arg107Gly | |
| NM_001323645.1:c.319C>G | NP_001310574.1:p.Arg107Gly | |
| NM_001323646.1:c.319C>G | NP_001310575.1:p.Arg107Gly | |
| NM_001323647.1:c.319C>G | NP_001310576.1:p.Arg107Gly | |
| NM_001323648.1:c.319C>G | NP_001310577.1:p.Arg107Gly | |
| NM_001323649.1:c.319C>G | NP_001310578.1:p.Arg107Gly | |
| NM_001323650.1:c.319C>G | NP_001310579.1:p.Arg107Gly | |
| NM_001323651.1:c.319C>G | NP_001310580.1:p.Arg107Gly | |
| NM_001323652.1:c.319C>G | NP_001310581.1:p.Arg107Gly | |
| NM_001323653.1:c.319C>G | NP_001310582.1:p.Arg107Gly | |
| NM_001323654.1:c.319C>G | NP_001310583.1:p.Arg107Gly | |
| NM_001323655.1:c.319C>G | NP_001310584.1:p.Arg107Gly | |
| NM_001323656.1:c.319C>G | NP_001310585.1:p.Arg107Gly | |
| NM_001323657.1:c.319C>G | NP_001310586.1:p.Arg107Gly | |
| NM_001323658.1:c.319C>G | NP_001310587.1:p.Arg107Gly | |
| NM_001323659.1:c.319C>G | NP_001310588.1:p.Arg107Gly | |
| NM_001323660.1:c.319C>G | NP_001310589.1:p.Arg107Gly | |
| NM_001323661.1:c.319C>G | NP_001310590.1:p.Arg107Gly | |
| NM_001323662.1:c.319C>G | NP_001310591.1:p.Arg107Gly | |
| NM_001323663.1:c.319C>G | NP_001310592.1:p.Arg107Gly | |
| NM_001323664.1:c.319C>G | NP_001310593.1:p.Arg107Gly | |
| NM_001323665.1:c.319C>G | NP_001310594.1:p.Arg107Gly | |
| NM_001323666.1:c.319C>G | NP_001310595.1:p.Arg107Gly | |
| NM_001323671.1:c.319C>G | NP_001310600.1:p.Arg107Gly | |
| NM_001323672.1:c.319C>G | NP_001310601.1:p.Arg107Gly | |
| NM_001323673.1:c.319C>G | NP_001310602.1:p.Arg107Gly | |
| NM_001323674.1:c.751C>G | NP_001310603.1:p.Arg251Gly | |
| NM_001323675.1:c.709C>G | NP_001310604.1:p.Arg237Gly | |
| NM_001323676.1:c.934C>G | NP_001310605.1:p.Arg312Gly | |
| NM_001323677.1:c.931C>G | NP_001310606.1:p.Arg311Gly | |
| NM_001323678.1:c.700C>G | NP_001310607.1:p.Arg234Gly | |
| XM_006717498.2:c.319C>G | XP_006717561.1:p.Arg107Gly | |
| XM_011519643.2:c.319C>G | XP_011517945.1:p.Arg107Gly | |
| XM_017016597.1:c.319C>G | XP_016872086.1:p.Arg107Gly | |
| NM_001174093.2:c.913C>G | NP_001167564.1:p.Arg305Gly | |
| NM_001174094.2:c.922C>G | NP_001167565.1:p.Arg308Gly | |
| NM_001174095.2:c.772C>G | NP_001167566.1:p.Arg258Gly | |
| NM_001323638.2:c.319C>G | NP_001310567.1:p.Arg107Gly | |
| NM_001323641.2:c.319C>G | NP_001310570.1:p.Arg107Gly | |
| NM_001323642.2:c.319C>G | NP_001310571.1:p.Arg107Gly | |
| NM_001323643.2:c.319C>G | NP_001310572.1:p.Arg107Gly | |
| NM_001323644.2:c.319C>G | NP_001310573.1:p.Arg107Gly | |
| NM_001323645.2:c.319C>G | NP_001310574.1:p.Arg107Gly | |
| NM_001323646.2:c.319C>G | NP_001310575.1:p.Arg107Gly | |
| NM_001323647.2:c.319C>G | NP_001310576.1:p.Arg107Gly | |
| NM_001323648.2:c.319C>G | NP_001310577.1:p.Arg107Gly | |
| NM_001323649.2:c.319C>G | NP_001310578.1:p.Arg107Gly | |
| NM_001323650.2:c.319C>G | NP_001310579.1:p.Arg107Gly | |
| NM_001323651.2:c.319C>G | NP_001310580.1:p.Arg107Gly | |
| NM_001323652.2:c.319C>G | NP_001310581.1:p.Arg107Gly | |
| NM_001323653.2:c.319C>G | NP_001310582.1:p.Arg107Gly | |
| NM_001323654.2:c.319C>G | NP_001310583.1:p.Arg107Gly | |
| NM_001323655.2:c.319C>G | NP_001310584.1:p.Arg107Gly | |
| NM_001323656.2:c.319C>G | NP_001310585.1:p.Arg107Gly | |
| NM_001323657.2:c.319C>G | NP_001310586.1:p.Arg107Gly | |
| NM_001323658.2:c.319C>G | NP_001310587.1:p.Arg107Gly | |
| NM_001323659.2:c.319C>G | NP_001310588.1:p.Arg107Gly | |
| NM_001323660.2:c.319C>G | NP_001310589.1:p.Arg107Gly | |
| NM_001323661.2:c.319C>G | NP_001310590.1:p.Arg107Gly | |
| NM_001323662.2:c.319C>G | NP_001310591.1:p.Arg107Gly | |
| NM_001323663.2:c.319C>G | NP_001310592.1:p.Arg107Gly | |
| NM_001323664.2:c.319C>G | NP_001310593.1:p.Arg107Gly | |
| NM_001323665.2:c.319C>G | NP_001310594.1:p.Arg107Gly | |
| NM_001323666.2:c.319C>G | NP_001310595.1:p.Arg107Gly | |
| NM_001323671.2:c.319C>G | NP_001310600.1:p.Arg107Gly | |
| NM_001323672.2:c.319C>G | NP_001310601.1:p.Arg107Gly | |
| NM_001323673.2:c.319C>G | NP_001310602.1:p.Arg107Gly | |
| NM_001323674.2:c.751C>G | NP_001310603.1:p.Arg251Gly | |
| NM_001323675.2:c.709C>G | NP_001310604.1:p.Arg237Gly | |
| NM_001323676.2:c.934C>G | NP_001310605.1:p.Arg312Gly | |
| NM_001323677.2:c.931C>G | NP_001310606.1:p.Arg311Gly | |
| NM_001323678.2:c.700C>G | NP_001310607.1:p.Arg234Gly | |
| NM_030751.6:c.973C>G | NP_110378.3:p.Arg325Gly | |
| NM_001128128.3:c.925C>G | NP_001121600.1:p.Arg309Gly | |
| NM_001174096.2:c.976C>G MANE Select | NP_001167567.1:p.Arg326Gly |