Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_005854.3
p.E39D
c.117G>C
NM_005854.3
p.E39D
c.117G>T
NM_005854.3
p.E54K
c.160G>A
NM_005854.3
p.F103S
c.308T>C
NM_005854.3
p.N113fs
c.337_338fs
NM_005854.3
p.N130D
c.388A>G
NM_005854.3
p.E143K
c.427G>A
NM_005854.3
p.S171R
c.511A>C
NM_005854.3
p.S171R
c.513T>A
NM_005854.3
p.S171R
c.513T>G
NM_005854.3
p.L14I
c.40C>A
NM_005854.3
p.V19V
c.57C>A