Papers
RefSeq ID
Protein change
DNA change
1–12 of 200 variants
NM_005066.3
p.N533H
c.1597A>C
NM_005066.3
p.L534I
c.1600C>A
NM_005066.3
p.A672V
c.2015C>T
NM_005066.3
p.Q95L
c.284A>T
NM_005066.3
p.E417*
c.1249G>T
NM_005066.3
p.Y470C
c.1409A>G
NM_005066.3
p.R548C
c.1642C>T
NM_005066.3
p.R548H
c.1643G>A
NM_005066.3
p.R581C
c.1741C>T
NM_005066.3
p.M1T
c.2T>C
NM_005066.3
p.M1K
c.2T>A
NM_005066.3
p.M1_S2insFs
c.3_4insA