Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_003670.3
p.R58P
c.173G>C
NM_003670.3
p.S49N
c.146G>A
NM_003670.3
p.Q35Q
c.105A>G
NM_003670.3
p.R41Q
c.122G>A
NM_003670.3
p.K44E
c.130A>G
NM_003670.3
p.E47E
c.141G>A
NM_003670.3
p.E51Q
c.151G>C
NM_003670.3
p.Y53C
c.158A>G
NM_003670.3
p.Y53*
c.159C>G
NM_003670.3
p.L79L
c.235C>T
NM_003670.3
p.L79P
c.236T>C
NM_003670.3
p.G89D
c.266G>A