|
ENST00000682424.1:c.496G>C
|
ENSP00000507321.1:p.Val166Leu
|
|
|
ENST00000299427.12:c.610G>C
MANE Select
|
ENSP00000299427.6:p.Val204Leu
|
|
|
ENST00000436873.7:c.312+249G>C
|
|
|
|
ENST00000524788.2:n.1769G>C
|
|
|
|
ENST00000524903.2:n.1885G>C
|
|
|
|
ENST00000528807.2:n.266G>C
|
|
|
|
ENST00000530040.2:n.479+307G>C
|
|
|
|
ENST00000533371.6:c.-120G>C
|
ENSP00000437066.1:n.-120G>C
|
|
|
ENST00000534644.6:n.558G>C
|
|
|
|
ENST00000642892.1:c.-120G>C
|
ENSP00000494165.1:n.-120G>C
|
|
|
ENST00000643439.1:c.*350G>C
|
ENSP00000495849.1:n.*350G>C
|
|
|
ENST00000643479.1:n.639G>C
|
|
|
|
ENST00000643516.1:c.395+249G>C
|
|
|
|
ENST00000644151.1:n.2049G>C
|
|
|
|
ENST00000644218.1:c.610G>C
|
ENSP00000493574.1:p.Val204Leu
|
|
|
ENST00000644683.1:c.*63G>C
|
ENSP00000494085.1:n.*63G>C
|
|
|
ENST00000644810.1:c.331G>C
|
ENSP00000495895.1:p.Val111Leu
|
|
|
ENST00000644831.1:n.786G>C
|
|
|
|
ENST00000644933.1:c.-120G>C
|
ENSP00000496133.1:n.-120G>C
|
|
|
ENST00000645020.1:n.1785G>C
|
|
|
|
ENST00000645285.1:c.-120G>C
|
ENSP00000495058.1:n.-120G>C
|
|
|
ENST00000645331.1:n.976G>C
|
|
|
|
ENST00000645620.1:c.-120G>C
|
ENSP00000493657.1:n.-120G>C
|
|
|
ENST00000646777.1:n.786G>C
|
|
|
|
ENST00000647016.1:n.1090G>C
|
|
|
|
ENST00000647152.1:c.-120G>C
|
ENSP00000495893.1:n.-120G>C
|
|
|
ENST00000647209.1:c.*479G>C
|
ENSP00000495558.1:n.*479G>C
|
|
|
ENST00000647346.1:n.1630G>C
|
|
|
|
ENST00000299427.10:c.610G>C
|
ENSP00000299427.6:p.Val204Leu
|
|
|
ENST00000428886.6:n.779G>C
|
|
|
|
ENST00000436873.6:c.450+307G>C
|
ENSP00000398136.2:n.450+307G>C
|
|
|
ENST00000524788.1:n.310G>C
|
|
|
|
ENST00000528571.5:c.*350G>C
|
ENSP00000434647.1:n.*350G>C
|
|
|
ENST00000528807.1:n.160G>C
|
|
|
|
ENST00000533371.5:c.-120G>C
|
ENSP00000437066.1:n.-120G>C
|
|
|
ENST00000534644.5:n.595G>C
|
|
|
|
ENST00000611494.4:c.610G>C
|
ENSP00000484546.1:p.Val204Leu
|
|
|
NM_000391.3:c.610G>C
|
NP_000382.3:p.Val204Leu
|
|
|
NM_000391.4:c.610G>C
MANE Select
|
NP_000382.3:p.Val204Leu
|
|
