Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_005736.4
p.G59S
c.175G>A
NM_005736.4
p.E210A
c.629A>C
NM_005736.4
p.E212A
c.635A>C
NM_005736.4
p.E364K
c.1090G>A
NM_005736.4
p.E2D
c.6G>C
NM_005736.4
p.D5E
c.15T>G
NM_005736.4
p.D5D
c.15T>C
NM_005736.4
p.D5E
c.15T>A
NM_005736.4
p.N16_G17Splc
c.48+4A>C
NM_005736.4
p.G24D
c.71G>A
NM_005736.4
p.R41Q
c.122G>A
NM_005736.4
p.H44H
c.132C>T