Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_005109.3
p.D164A
c.491A>C
NM_005109.3
p.T304I
c.911C>T
NM_005109.3
p.C70R
c.208T>C
NM_005109.3
p.R145Splc
c.435-4A>T
NM_005109.3
p.M1R
c.2T>G
NM_005109.3
p.D16A
c.47A>C
NM_005109.3
p.G97E
c.290G>A
NM_005109.3
p.R128Q
c.383G>A
NM_005109.3
p.E135K
c.403G>A
NM_005109.3
p.H138R
c.413A>G
NM_005109.3
p.K139*
c.415A>T
NM_005109.3
p.R145Splc
c.434+1G>T