ENST00000647720.2:c.3517+123G>C
|
ENSP00000497673.2:n.3517+123G>C
|
|
ENST00000647978.2:c.*3354G>C
|
ENSP00000497658.1:n.*3354G>C
|
|
ENST00000649781.2:c.3457G>C
|
ENSP00000497203.1:p.Asp1153His
|
|
ENST00000685018.2:c.3640G>C
|
ENSP00000510194.2:p.Asp1214His
|
|
ENST00000687278.2:c.*293G>C
|
ENSP00000509593.2:n.*293G>C
|
|
ENST00000699585.1:c.3517+123G>C
|
ENSP00000514456.1:n.3517+123G>C
|
|
ENST00000699598.1:c.3640G>C
|
ENSP00000514467.1:p.Asp1214His
|
|
ENST00000699599.1:c.3640G>C
|
ENSP00000514468.1:p.Asp1214His
|
|
ENST00000699600.1:c.*301G>C
|
ENSP00000514469.1:n.*301G>C
|
|
ENST00000699601.1:c.*2015G>C
|
ENSP00000514470.1:n.*2015G>C
|
|
ENST00000699602.1:c.3634G>C
|
ENSP00000514471.1:p.Asp1212His
|
|
ENST00000699604.1:c.*3464G>C
|
ENSP00000514472.1:n.*3464G>C
|
|
ENST00000699605.1:c.3214G>C
|
ENSP00000514473.1:p.Asp1072His
|
|
ENST00000685018.1:c.388G>C
|
ENSP00000510194.1:p.Asp130His
|
|
ENST00000687278.1:c.1427G>C
|
ENSP00000509593.1:n.1427G>C
|
|
ENST00000689011.1:c.222G>C
|
|
|
ENST00000003084.11:c.3640G>C
MANE Select
|
ENSP00000003084.6:p.Asp1214His
|
|
ENST00000647720.1:c.1167+123G>C
|
|
|
ENST00000648260.1:c.2422G>C
|
ENSP00000497957.1:p.Asp808His
|
|
ENST00000649406.1:c.3457G>C
|
ENSP00000497965.1:p.Asp1153His
|
|
ENST00000649781.1:c.3457G>C
|
ENSP00000497203.1:p.Asp1153His
|
|
ENST00000003084.10:c.3640G>C
|
ENSP00000003084.6:p.Asp1214His
|
|
ENST00000426809.5:c.3550G>C
|
ENSP00000389119.1:p.Asp1184His
|
|
ENST00000468795.1:c.465G>C
|
|
|
NM_000492.3:c.3640G>C , LRG_663t1:c.3640G>C
|
NP_000483.3:p.Asp1214His
|
|
XM_011515751.1:c.3730G>C
|
XP_011514053.1:p.Asp1244His
|
|
XM_011515752.1:c.3730G>C
|
XP_011514054.1:p.Asp1244His
|
|
XM_011515753.1:c.3397G>C
|
XP_011514055.1:p.Asp1133His
|
|
XM_011515754.1:c.3397G>C
|
XP_011514056.1:p.Asp1133His
|
|
NM_000492.4:c.3640G>C
MANE Select
|
NP_000483.3:p.Asp1214His
|
|