Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
NM_003038.5
p.E256K
c.766G>A
NM_003038.5
p.R457W
c.1369C>T
NM_003038.5
p.Y191*
c.573T>A
NM_003038.5
p.Y191*
c.573T>G
NM_003038.5
p.L315fs
c.943_944fs
NM_003038.5
p.G381R
c.1141G>A
NM_003038.5
p.G381R
c.1141G>C
NM_003038.5
p.W453*
c.1358G>A
NM_003038.5
p.W453*
c.1359G>A
NM_003038.5
p.L315fs
c.943_944fs
NM_003038.5
p.R322*
c.964C>T
NM_003038.5
p.R457Q
c.1370G>A