Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_005244.5
p.P188L
c.563C>T
NM_005244.5
p.E507Q
c.1519G>C
NM_005244.5
p.Y69*
c.207C>A
NM_005244.5
p.Y69*
c.207C>G
NM_005244.5
p.G247R
c.739G>A
NM_005244.5
p.G247R
c.739G>C
NM_005244.5
p.G251C
c.751G>T
NM_005244.5
p.R386Q
c.1157G>A
NM_005244.5
p.P516R
c.1547C>G
NM_005244.5
p.D15N
c.43G>A
NM_005244.5
p.D18E
c.54T>A
NM_005244.5
p.D18E
c.54T>G