Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_005249.5
p.H47Y
c.139C>T
Surrounding Variants
NM_005249.5
p.Q46H
c.138G>C
NM_005249.5
p.H53_H54ins0
c.159_161dupCCA
NM_005249.5
p.Q46H
c.138G>T
NM_005249.5
p.H47del1
c.139_140delCAC
NM_005249.5
p.H47_H51del5
c.139_152del15
NM_005249.5
p.Q46*
c.136C>T
NM_005249.5
p.Q46fs
c.136_137fs
NM_005249.5
p.P45fs
c.133_134fs
NM_005249.5
p.Q46insFs
c.136dupC
NM_005249.5
p.H43L
c.128A>T
NM_005249.5
p.H44_P45delFs
c.131_134del4
NM_005249.5
p.H51Y
c.151C>T