Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_006034.5
p.K23K
c.69G>A
NM_006034.5
p.L28V
c.82C>G
NM_006034.5
p.V30L
c.88G>T
NM_006034.5
p.V30L
c.88G>C
NM_006034.5
p.D35D
c.105C>T
NM_006034.5
p.K43_I44Splc
c.130-310G>A
NM_006034.5
p.K43_I44Splc
c.130-49G>A
NM_006034.5
p.R63Splc
c.189-8C>T
NM_006034.5
p.F67S
c.200T>C
NM_006034.5
p.A90V
c.269C>T
NM_006034.5
p.P102L
c.305C>T
NM_006034.5
p.A137V
c.410C>T