ENST00000682424.1:c.456G>C
|
ENSP00000507321.1:p.Val152=
|
|
ENST00000299427.12:c.570G>C
MANE Select
|
ENSP00000299427.6:p.Val190=
|
|
ENST00000428886.7:n.805G>C
|
|
|
ENST00000436873.7:c.312+209G>C
|
|
|
ENST00000524788.2:n.1729G>C
|
|
|
ENST00000524903.2:n.1845G>C
|
|
|
ENST00000528807.2:n.226G>C
|
|
|
ENST00000530040.2:n.479+267G>C
|
|
|
ENST00000533371.6:c.-160G>C
|
ENSP00000437066.1:n.-160G>C
|
|
ENST00000534644.6:n.518G>C
|
|
|
ENST00000642892.1:c.-160G>C
|
ENSP00000494165.1:n.-160G>C
|
|
ENST00000643439.1:c.*310G>C
|
ENSP00000495849.1:n.*310G>C
|
|
ENST00000643479.1:n.599G>C
|
|
|
ENST00000643516.1:c.395+209G>C
|
|
|
ENST00000644151.1:n.2009G>C
|
|
|
ENST00000644218.1:c.570G>C
|
ENSP00000493574.1:p.Val190=
|
|
ENST00000644683.1:c.*23G>C
|
ENSP00000494085.1:n.*23G>C
|
|
ENST00000644810.1:c.291G>C
|
ENSP00000495895.1:p.Val97=
|
|
ENST00000644831.1:n.746G>C
|
|
|
ENST00000644933.1:c.-160G>C
|
ENSP00000496133.1:n.-160G>C
|
|
ENST00000645020.1:n.1745G>C
|
|
|
ENST00000645285.1:c.-160G>C
|
ENSP00000495058.1:n.-160G>C
|
|
ENST00000645331.1:n.936G>C
|
|
|
ENST00000645620.1:c.-160G>C
|
ENSP00000493657.1:n.-160G>C
|
|
ENST00000646777.1:n.746G>C
|
|
|
ENST00000647016.1:n.1050G>C
|
|
|
ENST00000647152.1:c.-160G>C
|
ENSP00000495893.1:n.-160G>C
|
|
ENST00000647209.1:c.*439G>C
|
ENSP00000495558.1:n.*439G>C
|
|
ENST00000647346.1:n.1590G>C
|
|
|
ENST00000299427.10:c.570G>C
|
ENSP00000299427.6:p.Val190=
|
|
ENST00000428886.6:n.739G>C
|
|
|
ENST00000436873.6:c.450+267G>C
|
ENSP00000398136.2:n.450+267G>C
|
|
ENST00000524788.1:n.270G>C
|
|
|
ENST00000528571.5:c.*310G>C
|
ENSP00000434647.1:n.*310G>C
|
|
ENST00000528807.1:n.120G>C
|
|
|
ENST00000533371.5:c.-160G>C
|
ENSP00000437066.1:n.-160G>C
|
|
ENST00000534644.5:n.555G>C
|
|
|
ENST00000611494.4:c.570G>C
|
ENSP00000484546.1:p.Val190=
|
|
NM_000391.3:c.570G>C
|
NP_000382.3:p.Val190=
|
|
NM_000391.4:c.570G>C
MANE Select
|
NP_000382.3:p.Val190=
|
|