Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_005999.3
p.E126A
c.377A>C
NM_005999.3
p.E197A
c.590A>C
NM_005999.3
p.F10insFs
c.28dupT
NM_005999.3
p.N30S
c.89A>G
NM_005999.3
p.K40R
c.119A>G
NM_005999.3
p.E66E
c.198A>G
NM_005999.3
p.D112E
c.336T>A
NM_005999.3
p.D112E
c.336T>G
NM_005999.3
p.M113T
c.338T>C
NM_005999.3
p.A119G
c.356C>G
NM_005999.3
p.G123Splc
c.367+3390T>A
NM_005999.3
p.E129A
c.386A>C