|
ENST00000447952.7:c.768G>T
(C2)
|
ENSP00000391354.3:p.Glu256Asp
|
|
|
ENST00000452323.7:c.347-1292G>T
(C2)
|
ENSP00000392322.2:n.347-1292G>T
|
|
|
ENST00000468407.2:c.954G>T
(C2)
|
ENSP00000512075.1:p.Glu318Asp
|
|
|
ENST00000497706.6:c.315G>T
(C2)
|
ENSP00000417482.2:p.Glu105Asp
|
|
|
ENST00000695637.1:c.549G>T
(C2)
|
ENSP00000512074.1:p.Glu183Asp
|
|
|
ENST00000695638.1:c.954G>T
(C2)
|
ENSP00000512076.1:p.Glu318Asp
|
|
|
ENST00000695644.1:c.558G>T
(C2)
|
ENSP00000512079.1:p.Glu186Asp
|
|
|
ENST00000299367.10:c.954G>T
(C2)
MANE Select
|
ENSP00000299367.5:p.Glu318Asp
|
|
|
ENST00000299367.9:c.954G>T
(C2)
|
ENSP00000299367.5:p.Glu318Asp
|
|
|
ENST00000383177.7:c.310-1292G>T
(C2)
|
|
|
|
ENST00000411571.6:c.*194G>T
(C2)
|
ENSP00000388727.2:n.*194G>T
|
|
|
ENST00000442278.6:c.558G>T
(C2)
|
ENSP00000395683.2:p.Glu186Asp
|
|
|
ENST00000452323.6:c.347-1292G>T
(C2)
|
ENSP00000392322.2:n.347-1292G>T
|
|
|
ENST00000456570.5:c.530-1292G>T
|
ENSP00000410815.1:n.530-1292G>T
|
|
|
ENST00000469372.5:c.216G>T
(C2)
|
ENSP00000418923.1:p.Glu72Asp
|
|
|
ENST00000477310.1:c.443-1292G>T
|
ENSP00000418996.1:n.443-1292G>T
|
|
|
ENST00000482060.5:c.*667G>T
(C2)
|
ENSP00000418332.1:n.*667G>T
|
|
|
ENST00000485690.5:c.122G>T
(C2)
|
|
|
|
ENST00000497706.5:c.315G>T
(C2)
|
ENSP00000417482.1:p.Glu105Asp
|
|
|
NM_000063.5:c.954G>T
(C2)
|
NP_000054.2:p.Glu318Asp
|
|
|
NM_001145903.2:c.558G>T
(C2)
|
NP_001139375.1:p.Glu186Asp
|
|
|
NM_001178063.2:c.347-1292G>T
(C2)
|
NP_001171534.1:n.347-1292G>T
|
|
|
NM_001282457.1:c.216G>T
(C2)
|
NP_001269386.1:p.Glu72Asp
|
|
|
NM_001282458.1:c.867G>T
(C2)
|
NP_001269387.1:p.Glu289Asp
|
|
|
NR_104191.1:n.541-625C>A
(C2-AS1)
|
|
|
|
NM_000063.6:c.954G>T
(C2)
MANE Select
|
NP_000054.2:p.Glu318Asp
|
|
|
NM_001145903.3:c.558G>T
(C2)
|
NP_001139375.1:p.Glu186Asp
|
|
|
NM_001282457.2:c.216G>T
(C2)
|
NP_001269386.1:p.Glu72Asp
|
|
|
NM_001282458.2:c.867G>T
(C2)
|
NP_001269387.1:p.Glu289Asp
|
|
|
NM_001178063.3:c.347-1292G>T
(C2)
|
NP_001171534.1:n.347-1292G>T
|
|
