Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_005086.5
p.K192N
c.576A>C
NM_005086.5
p.K192N
c.576A>T
NM_005086.5
p.M1T
c.2T>C
NM_005086.5
p.P16Q
c.47C>A
NM_005086.5
p.P17Q
c.50C>A
NM_005086.5
p.A22T
c.64G>A
NM_005086.5
p.P29_K30Fs
c.85_89delinsACTFs
NM_005086.5
p.A35T
c.103G>A
NM_005086.5
p.P36T
c.106C>A
NM_005086.5
p.L54R
c.161T>G
NM_005086.5
p.A57T
c.169G>A
NM_005086.5
p.A62V
c.185C>T