|
ENST00000354071.8:n.3201A>C
|
|
|
|
ENST00000461574.2:c.3137A>C
|
ENSP00000417241.2:p.Glu1046Ala
|
|
|
ENST00000470026.6:c.3137A>C
|
ENSP00000419274.2:p.Glu1046Ala
|
|
|
ENST00000473961.6:c.3011A>C
|
ENSP00000420201.2:p.Glu1004Ala
|
|
|
ENST00000476777.6:c.3134A>C
|
ENSP00000417554.2:p.Glu1045Ala
|
|
|
ENST00000477152.6:c.3059A>C
|
ENSP00000419988.2:p.Glu1020Ala
|
|
|
ENST00000478531.6:c.785-1362A>C
|
ENSP00000420412.2:n.785-1362A>C
|
|
|
ENST00000489037.2:c.3059A>C
|
ENSP00000420781.2:p.Glu1020Ala
|
|
|
ENST00000493919.6:c.647-1362A>C
|
ENSP00000418819.2:n.647-1362A>C
|
|
|
ENST00000494123.6:c.3137A>C
|
ENSP00000419103.2:p.Glu1046Ala
|
|
|
ENST00000497488.2:c.2249A>C
|
ENSP00000418986.2:p.Glu750Ala
|
|
|
ENST00000618469.2:c.3137A>C
|
ENSP00000478114.2:p.Glu1046Ala
|
|
|
ENST00000634433.2:c.3014A>C
|
ENSP00000489431.2:p.Glu1005Ala
|
|
|
ENST00000644379.2:c.3137A>C
|
ENSP00000496570.2:p.Glu1046Ala
|
|
|
ENST00000644555.2:c.647-1362A>C
|
ENSP00000494614.2:n.647-1362A>C
|
|
|
ENST00000652672.2:c.2996A>C
|
ENSP00000498906.2:p.Glu999Ala
|
|
|
ENST00000484087.6:c.665-1362A>C
|
ENSP00000419481.2:n.665-1362A>C
|
|
|
ENST00000700182.1:c.707-1362A>C
|
ENSP00000514849.1:n.707-1362A>C
|
|
|
ENST00000357654.9:c.3137A>C
MANE Select
|
ENSP00000350283.3:p.Glu1046Ala
|
|
|
ENST00000471181.7:c.3137A>C
|
ENSP00000418960.2:p.Glu1046Ala
|
|
|
ENST00000352993.7:c.671-1362A>C
|
ENSP00000312236.5:n.671-1362A>C
|
|
|
ENST00000354071.7:c.3137A>C
|
ENSP00000326002.7:p.Glu1046Ala
|
|
|
ENST00000357654.7:c.3137A>C
|
ENSP00000350283.3:p.Glu1046Ala
|
|
|
ENST00000461221.5:c.*2920A>C
|
ENSP00000418548.1:n.*2920A>C
|
|
|
ENST00000468300.5:c.788-1362A>C
|
ENSP00000417148.1:n.788-1362A>C
|
|
|
ENST00000471181.6:c.3137A>C
|
ENSP00000418960.2:p.Glu1046Ala
|
|
|
ENST00000478531.5:c.785-1362A>C
|
ENSP00000420412.1:n.785-1362A>C
|
|
|
ENST00000484087.5:c.410-1362A>C
|
ENSP00000419481.1:n.410-1362A>C
|
|
|
ENST00000487825.5:c.413-1362A>C
|
ENSP00000418212.1:n.413-1362A>C
|
|
|
ENST00000491747.6:c.788-1362A>C
|
ENSP00000420705.2:n.788-1362A>C
|
|
|
ENST00000493795.5:c.2996A>C
|
ENSP00000418775.1:p.Glu999Ala
|
|
|
ENST00000493919.5:c.647-1362A>C
|
ENSP00000418819.1:n.647-1362A>C
|
|
|
ENST00000586385.5:c.5-28443A>C
|
ENSP00000465818.1:n.5-28443A>C
|
|
|
ENST00000591534.5:c.-43-17873A>C
|
ENSP00000467329.1:n.-43-17873A>C
|
|
|
ENST00000591849.5:c.-99+32877A>C
|
ENSP00000465347.1:n.-99+32877A>C
|
|
|
NM_007294.3:c.3137A>C , LRG_292t1:c.3137A>C
|
NP_009225.1:p.Glu1046Ala
|
|
|
NM_007297.3:c.2996A>C
|
NP_009228.2:p.Glu999Ala
|
|
|
NM_007298.3:c.788-1362A>C
|
NP_009229.2:n.788-1362A>C
|
|
|
NM_007299.3:c.788-1362A>C
|
NP_009230.2:n.788-1362A>C
|
|
|
NM_007300.3:c.3137A>C
|
NP_009231.2:p.Glu1046Ala
|
|
|
NR_027676.1:n.3273A>C
|
|
|
|
NM_007294.4:c.3137A>C
MANE Select
|
NP_009225.1:p.Glu1046Ala
|
|
|
NM_007297.4:c.2996A>C
|
NP_009228.2:p.Glu999Ala
|
|
|
NM_007299.4:c.788-1362A>C
|
NP_009230.2:n.788-1362A>C
|
|
|
NM_007300.4:c.3137A>C
|
NP_009231.2:p.Glu1046Ala
|
|
|
NR_027676.2:n.3314A>C
|
|
|
