ENST00000634296.2:c.*726G>T
|
ENSP00000489512.2:n.*726G>T
|
|
ENST00000673864.2:c.*1637G>T
|
ENSP00000501045.2:n.*1637G>T
|
|
ENST00000674147.2:c.2272G>T
|
ENSP00000500964.2:p.Glu758Ter
|
|
ENST00000242839.10:c.2893G>T
MANE Select
|
ENSP00000242839.5:p.Glu965Ter
|
|
ENST00000344297.9:c.2272G>T
|
ENSP00000342559.5:p.Glu758Ter
|
|
ENST00000400366.6:c.2560G>T
|
ENSP00000383217.3:p.Glu854Ter
|
|
ENST00000448424.7:c.2641G>T
|
ENSP00000416738.3:p.Glu881Ter
|
|
ENST00000673772.1:c.2659G>T
|
ENSP00000501168.1:p.Glu887Ter
|
|
ENST00000673867.1:n.1040G>T
|
|
|
ENST00000674126.1:n.3256G>T
|
|
|
ENST00000674147.1:c.1828G>T
|
ENSP00000500964.1:p.Glu610Ter
|
|
ENST00000242839.8:c.2893G>T
|
ENSP00000242839.4:p.Glu965Ter
|
|
ENST00000344297.8:c.2272G>T
|
ENSP00000342559.5:p.Glu758Ter
|
|
ENST00000400366.5:c.2560G>T
|
ENSP00000383217.3:p.Glu854Ter
|
|
ENST00000400370.8:c.1603G>T
|
ENSP00000383221.3:p.Glu535Ter
|
|
ENST00000418097.7:c.2866-2160G>T
|
ENSP00000393343.2:n.2866-2160G>T
|
|
ENST00000448424.6:c.2659G>T
|
ENSP00000416738.2:p.Glu887Ter
|
|
ENST00000466629.1:n.113G>T
|
|
|
ENST00000634296.1:c.854G>T
|
|
|
ENST00000634308.1:c.2679G>T
|
ENSP00000489234.1:p.Gln893His
|
|
ENST00000634620.1:n.3637G>T
|
|
|
ENST00000634810.1:n.2238G>T
|
|
|
ENST00000634844.1:c.2749G>T
|
ENSP00000489398.1:p.Glu917Ter
|
|
ENST00000635406.1:n.239G>T
|
|
|
NM_000053.3:c.2893G>T
|
NP_000044.2:p.Glu965Ter
|
|
NM_001005918.2:c.2272G>T
|
NP_001005918.1:p.Glu758Ter
|
|
NM_001243182.1:c.2560G>T
|
NP_001230111.1:p.Glu854Ter
|
|
XM_005266423.2:c.2797G>T
|
XP_005266480.1:p.Glu933Ter
|
|
XM_005266424.3:c.2797G>T
|
XP_005266481.1:p.Glu933Ter
|
|
XM_005266427.2:c.2659G>T
|
XP_005266484.1:p.Glu887Ter
|
|
XM_005266428.1:c.2641G>T
|
XP_005266485.1:p.Glu881Ter
|
|
XM_005266430.3:c.2893G>T
|
XP_005266487.1:p.Glu965Ter
|
|
XM_005266431.2:c.2857G>T
|
XP_005266488.1:p.Glu953Ter
|
|
XM_005266432.2:c.2407G>T
|
XP_005266489.1:p.Glu803Ter
|
|
XM_006719837.2:c.2797G>T
|
XP_006719900.1:p.Glu933Ter
|
|
XM_006719838.1:c.709G>T
|
XP_006719901.1:p.Glu237Ter
|
|
XM_006719839.1:c.709G>T
|
XP_006719902.1:p.Glu237Ter
|
|
XM_011535117.1:c.2797G>T
|
XP_011533419.1:p.Glu933Ter
|
|
XM_011535118.1:c.2758G>T
|
XP_011533420.1:p.Glu920Ter
|
|
XM_011535119.1:c.2893G>T
|
XP_011533421.1:p.Glu965Ter
|
|
XM_011535120.1:c.2479G>T
|
XP_011533422.1:p.Glu827Ter
|
|
XM_011535121.1:c.2730+3556G>T
|
XP_011533423.1:n.2730+3556G>T
|
|
XM_011535122.1:c.1561G>T
|
XP_011533424.1:p.Glu521Ter
|
|
XR_941601.1:n.3112G>T
|
|
|
XR_941602.1:n.3112G>T
|
|
|
XR_941603.1:n.3112G>T
|
|
|
XR_941604.1:n.3112G>T
|
|
|
NM_001330578.1:c.2659G>T
|
NP_001317507.1:p.Glu887Ter
|
|
NM_001330579.1:c.2641G>T
|
NP_001317508.1:p.Glu881Ter
|
|
XM_005266424.4:c.2797G>T
|
XP_005266481.1:p.Glu933Ter
|
|
XM_005266430.4:c.2893G>T
|
XP_005266487.1:p.Glu965Ter
|
|
XM_005266431.4:c.2857G>T
|
XP_005266488.1:p.Glu953Ter
|
|
XM_006719837.3:c.2797G>T
|
XP_006719900.1:p.Glu933Ter
|
|
XM_011535117.3:c.2797G>T
|
XP_011533419.1:p.Glu933Ter
|
|
XM_017020627.1:c.2797G>T
|
XP_016876116.1:p.Glu933Ter
|
|
NM_000053.4:c.2893G>T
MANE Select
|
NP_000044.2:p.Glu965Ter
|
|
NM_001005918.3:c.2272G>T
|
NP_001005918.1:p.Glu758Ter
|
|
NM_001330579.2:c.2641G>T
|
NP_001317508.1:p.Glu881Ter
|
|
NM_001243182.2:c.2560G>T
|
NP_001230111.1:p.Glu854Ter
|
|
NM_001330578.2:c.2659G>T
|
NP_001317507.1:p.Glu887Ter
|
|