Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_005481.3
p.H449Q
c.1347C>G
NM_005481.3
p.H449Q
c.1347C>A
NM_005481.3
p.E509K
c.1525G>A
NM_005481.3
p.D217N
c.649G>A
NM_005481.3
p.A231V
c.692C>T
NM_005481.3
p.R565H
c.1694G>A
NM_005481.3
p.R876P
c.2627G>C
NM_005481.3
p.P877L
c.2630C>T
NM_005481.3
p.M1delFs
c.1_2delAT
NM_005481.3
p.M1_C2del2
c.1_5del6
NM_005481.3
p.M12I
c.36G>T
NM_005481.3
p.M12I
c.36G>C