Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
NM_003506.4
p.R511C
c.1531C>T
NM_003506.4
p.E584*
c.1750G>T
NM_003506.4
p.M345L
c.1033A>C
NM_003506.4
p.M33V
c.97A>G
NM_003506.4
p.M345L
c.1033A>T
NM_003506.4
p.R405Q
c.1214G>A
NM_003506.4
p.G422D
c.1265G>A
NM_003506.4
p.R511H
c.1532G>A
NM_003506.4
p.G559fs
c.1675_1676fs
NM_003506.4
p.A664E
c.1991C>A
NM_003506.4
p.R96C
c.286C>T
NM_003506.4
p.Q152E
c.454C>G