ENST00000682424.1:c.534G>C
|
ENSP00000507321.1:p.Val178=
|
|
ENST00000299427.12:c.648G>C
MANE Select
|
ENSP00000299427.6:p.Val216=
|
|
ENST00000436873.7:c.312+287G>C
|
|
|
ENST00000524788.2:n.1807G>C
|
|
|
ENST00000524903.2:n.1923G>C
|
|
|
ENST00000528807.2:n.304G>C
|
|
|
ENST00000530040.2:n.479+345G>C
|
|
|
ENST00000533371.6:c.-82G>C
|
ENSP00000437066.1:n.-82G>C
|
|
ENST00000534644.6:n.596G>C
|
|
|
ENST00000642892.1:c.-82G>C
|
ENSP00000494165.1:n.-82G>C
|
|
ENST00000643439.1:c.*388G>C
|
ENSP00000495849.1:n.*388G>C
|
|
ENST00000643479.1:n.677G>C
|
|
|
ENST00000643516.1:c.395+287G>C
|
|
|
ENST00000644151.1:n.2087G>C
|
|
|
ENST00000644218.1:c.648G>C
|
ENSP00000493574.1:p.Val216=
|
|
ENST00000644683.1:c.*101G>C
|
ENSP00000494085.1:n.*101G>C
|
|
ENST00000644810.1:c.369G>C
|
ENSP00000495895.1:p.Val123=
|
|
ENST00000644831.1:n.824G>C
|
|
|
ENST00000644933.1:c.-82G>C
|
ENSP00000496133.1:n.-82G>C
|
|
ENST00000645020.1:n.1823G>C
|
|
|
ENST00000645285.1:c.-82G>C
|
ENSP00000495058.1:n.-82G>C
|
|
ENST00000645331.1:n.1014G>C
|
|
|
ENST00000645620.1:c.-82G>C
|
ENSP00000493657.1:n.-82G>C
|
|
ENST00000646777.1:n.824G>C
|
|
|
ENST00000647016.1:n.1128G>C
|
|
|
ENST00000647152.1:c.-82G>C
|
ENSP00000495893.1:n.-82G>C
|
|
ENST00000647209.1:c.*517G>C
|
ENSP00000495558.1:n.*517G>C
|
|
ENST00000647346.1:n.1668G>C
|
|
|
ENST00000299427.10:c.648G>C
|
ENSP00000299427.6:p.Val216=
|
|
ENST00000428886.6:n.817G>C
|
|
|
ENST00000436873.6:c.450+345G>C
|
ENSP00000398136.2:n.450+345G>C
|
|
ENST00000524788.1:n.348G>C
|
|
|
ENST00000528571.5:c.*388G>C
|
ENSP00000434647.1:n.*388G>C
|
|
ENST00000528807.1:n.198G>C
|
|
|
ENST00000533371.5:c.-82G>C
|
ENSP00000437066.1:n.-82G>C
|
|
ENST00000534644.5:n.633G>C
|
|
|
ENST00000611494.4:c.648G>C
|
ENSP00000484546.1:p.Val216=
|
|
NM_000391.3:c.648G>C
|
NP_000382.3:p.Val216=
|
|
NM_000391.4:c.648G>C
MANE Select
|
NP_000382.3:p.Val216=
|
|