Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_005333.5
p.E159K
c.475G>A
NM_005333.5
p.R217C
c.649C>T
NM_005333.5
p.R197*
c.589C>T
NM_005333.5
p.E159A
c.476A>C
NM_005333.5
p.V103ins1
c.308_309insAGT
NM_005333.5
p.W263*
c.789G>A
NM_005333.5
p.V64M
c.190G>A
NM_005333.5
p.A72V
c.215C>T
NM_005333.5
p.E140K
c.418G>A
NM_005333.5
p.E175delFs
c.524_525delAG
NM_005333.5
p.E175fs
c.523_524fs
NM_005333.5
p.E191V
c.572A>T