Papers
RefSeq ID
Protein change
DNA change
1–12 of 152 variants
NM_005192.4
p.V60L
c.178G>C
NM_005192.4
p.L84L
c.250C>T
NM_005192.4
p.R58*
c.172A>T
NM_005192.4
p.P114L
c.341C>T
NM_005192.4
p.E11D
c.33G>C
NM_005192.4
p.G50Splc
c.149-1G>A
NM_005192.4
p.Q61H
c.183A>C
NM_005192.4
p.Q61H
c.183A>T
NM_005192.4
p.C79S
c.236G>C
NM_005192.4
p.N91K
c.273C>A
NM_005192.4
p.N91K
c.273C>G
NM_005192.4
p.L95F
c.283C>T