Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
NM_005451.5
p.V50L
c.148G>T
NM_005451.5
p.V50L
c.148G>C
NM_005451.5
p.C282Y
c.845G>A
NM_005451.5
p.M1R
c.2T>G
NM_005451.5
p.L18P
c.53T>C
NM_005451.5
p.R71G
c.211C>G
NM_005451.5
p.N132K
c.396T>G
NM_005451.5
p.N132K
c.396T>A
NM_005451.5
p.G212S
c.634G>A
NM_005451.5
p.H361R
c.1082A>G
NM_005451.5
p.M381L
c.1141A>T
NM_005451.5
p.G410_F426del0
c.1229_1276del48