Papers
RefSeq ID
Protein change
DNA change
1–12 of 292 variants
NM_005121.3
p.P327S
c.979C>T
NM_005121.3
p.R512*
c.1534C>T
NM_005121.3
p.R1400*
c.4198C>T
NM_005121.3
p.T326I
c.977C>T
NM_005121.3
p.A418T
c.1252G>A
NM_005121.3
p.Y834C
c.2501A>G
NM_005121.3
p.G1150E
c.3449G>A
NM_005121.3
p.Y1649*
c.4947C>G
NM_005121.3
p.Y1649*
c.4947C>A
NM_005121.3
p.S1956A
c.5866T>G
NM_005121.3
p.C15S
c.44G>C
NM_005121.3
p.P42fs
c.124_125fs