Papers
RefSeq ID
Protein change
DNA change
1–12 of 1141 variants
NM_000512.5
p.R386C
c.1156C>T
NM_000512.5
p.G301C
c.901G>T
NM_000512.5
p.I113F
c.337A>T
NM_000512.5
p.M318R
c.953T>G
NM_000512.5
p.S287L
c.860C>T
NM_000512.5
p.G340D
c.1019G>A
NM_000512.5
p.P77R
c.230C>G
NM_000512.5
p.P125L
c.374C>T
NM_000512.5
p.N204K
c.612C>G
NM_000512.5
p.N204K
c.612C>A
NM_000512.5
p.T312S
c.934A>T
NM_000512.5
p.T312S
c.935C>G