|
ENST00000682424.1:c.161C>T
|
ENSP00000507321.1:p.Ser54Phe
|
|
|
ENST00000299427.12:c.275C>T
MANE Select
|
ENSP00000299427.6:p.Ser92Phe
|
|
|
ENST00000428886.7:n.363C>T
|
|
|
|
ENST00000436873.7:c.79C>T
|
|
|
|
ENST00000524788.2:n.1287C>T
|
|
|
|
ENST00000524903.2:n.1403C>T
|
|
|
|
ENST00000528571.6:c.*15C>T
|
ENSP00000434647.1:n.*15C>T
|
|
|
ENST00000530040.2:n.304C>T
|
|
|
|
ENST00000533371.6:c.-455C>T
|
ENSP00000437066.1:n.-455C>T
|
|
|
ENST00000534644.6:n.276C>T
|
|
|
|
ENST00000642892.1:c.-402C>T
|
ENSP00000494165.1:n.-402C>T
|
|
|
ENST00000643439.1:c.*15C>T
|
ENSP00000495849.1:n.*15C>T
|
|
|
ENST00000643479.1:n.304C>T
|
|
|
|
ENST00000643516.1:c.162C>T
|
|
|
|
ENST00000644151.1:n.1567C>T
|
|
|
|
ENST00000644218.1:c.275C>T
|
ENSP00000493574.1:p.Ser92Phe
|
|
|
ENST00000644683.1:c.275C>T
|
ENSP00000494085.1:p.Ser92Phe
|
|
|
ENST00000644810.1:c.230-578C>T
|
ENSP00000495895.1:n.230-578C>T
|
|
|
ENST00000644831.1:n.304C>T
|
|
|
|
ENST00000644933.1:c.-455C>T
|
ENSP00000496133.1:n.-455C>T
|
|
|
ENST00000645020.1:n.1303C>T
|
|
|
|
ENST00000645285.1:c.-455C>T
|
ENSP00000495058.1:n.-455C>T
|
|
|
ENST00000645331.1:n.297C>T
|
|
|
|
ENST00000645620.1:c.-397C>T
|
ENSP00000493657.1:n.-397C>T
|
|
|
ENST00000646777.1:n.304C>T
|
|
|
|
ENST00000647016.1:n.608C>T
|
|
|
|
ENST00000647152.1:c.-455C>T
|
ENSP00000495893.1:n.-455C>T
|
|
|
ENST00000647209.1:c.*144C>T
|
ENSP00000495558.1:n.*144C>T
|
|
|
ENST00000647346.1:n.1295C>T
|
|
|
|
ENST00000299427.10:c.275C>T
|
ENSP00000299427.6:p.Ser92Phe
|
|
|
ENST00000428886.6:n.297C>T
|
|
|
|
ENST00000436873.6:c.275C>T
|
ENSP00000398136.2:p.Ser92Phe
|
|
|
ENST00000528571.5:c.*15C>T
|
ENSP00000434647.1:n.*15C>T
|
|
|
ENST00000530040.1:n.387C>T
|
|
|
|
ENST00000533371.5:c.-455C>T
|
ENSP00000437066.1:n.-455C>T
|
|
|
ENST00000534644.5:n.260C>T
|
|
|
|
ENST00000611494.4:c.275C>T
|
ENSP00000484546.1:p.Ser92Phe
|
|
|
NM_000391.3:c.275C>T
|
NP_000382.3:p.Ser92Phe
|
|
|
NM_000391.4:c.275C>T
MANE Select
|
NP_000382.3:p.Ser92Phe
|
|
