Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_024053.5
p.N71N
c.213T>C
NM_024053.5
p.G12V
c.35G>T
NM_024053.5
p.G12D
c.35G>A
NM_024053.5
p.P61H
c.182C>A
NM_024053.5
p.S77I
c.230G>T
NM_024053.5
p.S77I
c.230G>T
NM_024053.5
p.S77S
c.231T>C
NM_024053.5
p.A90T
c.268G>A
NM_024053.5
p.C110R
c.328T>C
NM_024053.5
p.E134_V135Splc
c.403-1840A>C
NM_001110215.3
p.R3*
c.7C>T
NM_024053.5
p.E134_V135Splc
c.403-972C>T