Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_005539.5
p.A80V
c.239C>T
NM_005539.5
p.R168W
c.502C>T
NM_005539.5
p.D179H
c.535G>C
NM_005539.5
p.K4T
c.11A>C
NM_005539.5
p.K45R
c.134A>G
NM_005539.5
p.K73Q
c.217A>C
NM_005539.5
p.S77*
c.230C>A
NM_005539.5
p.K96E
c.286A>G
NM_005539.5
p.L114fs
c.340_341fs
NM_005539.5
p.R128G
c.382A>G
NM_005539.5
p.G132S
c.394G>A
NM_005539.5
p.T143T
c.429G>A