Papers
RefSeq ID
Protein change
DNA change
1–12 of 140 variants
NM_000513.2
p.P301L
c.902C>T
NM_000513.2
p.C203R
c.607T>C
NM_000513.2
p.P301S
c.901C>T
NM_000513.2
p.W177R
c.529T>A
NM_000513.2
p.W177R
c.529T>C
NM_000513.2
p.I178V
c.532A>G
NM_000513.2
p.A174V
c.521C>T
NM_000513.2
p.A180S
c.538G>T
NM_000513.2
p.P307L
c.920C>T
NM_000513.2
p.Q4Q
c.12G>A
NM_000513.2
p.G12S
c.34G>A
NM_000513.2
p.G12D
c.35G>A