Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_005033.3
p.L14P
c.41T>C
NM_005033.3
p.R161*
c.481C>T
NM_005033.3
p.G51R
c.151G>A
NM_005033.3
p.G51R
c.151G>C
NM_005033.3
p.L76fs
c.226_227fs
NM_005033.3
p.L80R
c.239T>G
NM_005033.3
p.S38S
c.114A>C
NM_005033.3
p.R162insFs
c.484dupA
NM_005033.3
p.R162fs
c.484_485fs
NM_005033.3
p.R215C
c.643C>T
NM_005033.3
p.S425T
c.1274G>C
NM_005033.3
p.M1I
c.3G>A