Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_005504.7
p.E61A
c.182A>C
NM_005504.7
p.H89Q
c.267C>G
NM_005504.7
p.H89Q
c.267C>A
NM_005504.7
p.C335S
c.1003T>A
NM_005504.7
p.C335S
c.1004G>C
NM_005504.7
p.C338S
c.1012T>A
NM_005504.7
p.C338S
c.1013G>C
NM_005504.7
p.M1I
c.3G>T
NM_005504.7
p.M1I
c.3G>C
NM_005504.7
p.M1I
c.3G>A
NM_005504.7
p.K2M
c.5A>T
NM_005504.7
p.K2_D3Splc
c.7-11035T>G