|
ENST00000682424.1:c.440G>T
|
ENSP00000507321.1:p.Arg147Leu
|
|
|
ENST00000299427.12:c.554G>T
MANE Select
|
ENSP00000299427.6:p.Arg185Leu
|
|
|
ENST00000428886.7:n.789G>T
|
|
|
|
ENST00000436873.7:c.312+193G>T
|
|
|
|
ENST00000524788.2:n.1713G>T
|
|
|
|
ENST00000524903.2:n.1829G>T
|
|
|
|
ENST00000528807.2:n.210G>T
|
|
|
|
ENST00000530040.2:n.479+251G>T
|
|
|
|
ENST00000533371.6:c.-176G>T
|
ENSP00000437066.1:n.-176G>T
|
|
|
ENST00000534644.6:n.502G>T
|
|
|
|
ENST00000642892.1:c.-176G>T
|
ENSP00000494165.1:n.-176G>T
|
|
|
ENST00000643439.1:c.*294G>T
|
ENSP00000495849.1:n.*294G>T
|
|
|
ENST00000643479.1:n.583G>T
|
|
|
|
ENST00000643516.1:c.395+193G>T
|
|
|
|
ENST00000644151.1:n.1993G>T
|
|
|
|
ENST00000644218.1:c.554G>T
|
ENSP00000493574.1:p.Arg185Leu
|
|
|
ENST00000644683.1:c.*7G>T
|
ENSP00000494085.1:n.*7G>T
|
|
|
ENST00000644810.1:c.275G>T
|
ENSP00000495895.1:p.Arg92Leu
|
|
|
ENST00000644831.1:n.730G>T
|
|
|
|
ENST00000644933.1:c.-176G>T
|
ENSP00000496133.1:n.-176G>T
|
|
|
ENST00000645020.1:n.1729G>T
|
|
|
|
ENST00000645285.1:c.-176G>T
|
ENSP00000495058.1:n.-176G>T
|
|
|
ENST00000645331.1:n.920G>T
|
|
|
|
ENST00000645620.1:c.-176G>T
|
ENSP00000493657.1:n.-176G>T
|
|
|
ENST00000646777.1:n.730G>T
|
|
|
|
ENST00000647016.1:n.1034G>T
|
|
|
|
ENST00000647152.1:c.-176G>T
|
ENSP00000495893.1:n.-176G>T
|
|
|
ENST00000647209.1:c.*423G>T
|
ENSP00000495558.1:n.*423G>T
|
|
|
ENST00000647346.1:n.1574G>T
|
|
|
|
ENST00000299427.10:c.554G>T
|
ENSP00000299427.6:p.Arg185Leu
|
|
|
ENST00000428886.6:n.723G>T
|
|
|
|
ENST00000436873.6:c.450+251G>T
|
ENSP00000398136.2:n.450+251G>T
|
|
|
ENST00000524788.1:n.254G>T
|
|
|
|
ENST00000528571.5:c.*294G>T
|
ENSP00000434647.1:n.*294G>T
|
|
|
ENST00000528807.1:n.104G>T
|
|
|
|
ENST00000533371.5:c.-176G>T
|
ENSP00000437066.1:n.-176G>T
|
|
|
ENST00000534644.5:n.539G>T
|
|
|
|
ENST00000611494.4:c.554G>T
|
ENSP00000484546.1:p.Arg185Leu
|
|
|
NM_000391.3:c.554G>T
|
NP_000382.3:p.Arg185Leu
|
|
|
NM_000391.4:c.554G>T
MANE Select
|
NP_000382.3:p.Arg185Leu
|
|
