Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_016021.3
p.C91S
c.271T>A
NM_016021.3
p.C91S
c.272G>C
NM_016021.3
p.L229V
c.685C>G
NM_016021.3
p.L308L
c.924G>T
NM_016021.3
p.Y5*
c.15C>G
NM_016021.3
p.Y5*
c.15C>A
NM_016021.3
p.Y5delFs
c.15delG
NM_016021.3
p.S9R
c.27T>A
NM_016021.3
p.H28R
c.83A>G
NM_016021.3
p.Y29*
c.87C>A
NM_016021.3
p.E35_D36Splc
c.105+87A>G
NM_016021.3
p.W41R
c.121T>A