Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_005309.3
p.L444P
c.1331T>C
NM_005309.3
p.M1I
c.3G>A
NM_005309.3
p.K58N
c.174G>C
NM_005309.3
p.M1I
c.3G>C
NM_005309.3
p.M1I
c.3G>T
NM_005309.3
p.V30M
c.88G>A
NM_005309.3
p.Q50R
c.149A>G
NM_005309.3
p.Q84_V85Splc
c.252+5G>A
NM_005309.3
p.L170L
c.508C>T
NM_005309.3
p.L444R
c.1331T>G
NM_005309.3
p.M1delFs
c.2delT
NM_005309.3
p.A2G
c.5C>G