ENST00000706952.1:c.3925G>C
|
ENSP00000516672.1:p.Val1309Leu
|
|
ENST00000638521.1:c.1453+863G>C
|
|
|
ENST00000638869.1:c.962+863G>C
|
|
|
ENST00000639796.1:c.316+1402G>C
|
ENSP00000492252.1:n.316+1402G>C
|
|
ENST00000640005.1:c.514+1402G>C
|
ENSP00000491293.1:n.514+1402G>C
|
|
ENST00000640694.1:c.*251G>C
|
ENSP00000492403.1:n.*251G>C
|
|
ENST00000642864.1:c.3766G>C
MANE Select
|
ENSP00000495726.1:p.Val1256Leu
|
|
ENST00000674510.1:c.3766G>C
|
ENSP00000502054.1:p.Val1256Leu
|
|
ENST00000675719.1:c.3736G>C
|
ENSP00000501927.1:p.Val1246Leu
|
|
ENST00000375365.2:c.*251G>C
|
ENSP00000364514.2:n.*251G>C
|
|
ENST00000396435.7:c.3766G>C
|
ENSP00000379712.3:p.Val1256Leu
|
|
NM_001111125.2:c.3766G>C
|
NP_001104595.1:p.Val1256Leu
|
|
NM_015075.1:c.*251G>C
|
NP_055890.1:n.*251G>C
|
|
XM_006724579.2:c.3862G>C
|
XP_006724642.1:p.Val1288Leu
|
|
XM_006724580.2:c.3151G>C
|
XP_006724643.1:p.Val1051Leu
|
|
XM_006724581.2:c.3597+863G>C
|
XP_006724644.1:n.3597+863G>C
|
|
XM_006724582.2:c.3597+863G>C
|
XP_006724645.1:n.3597+863G>C
|
|
XM_006724583.2:c.3547+1402G>C
|
XP_006724646.1:n.3547+1402G>C
|
|
XM_006724584.2:c.*251G>C
|
XP_006724647.1:n.*251G>C
|
|
XM_011530772.1:c.3088G>C
|
XP_011529074.1:p.Val1030Leu
|
|
XM_011530773.1:c.3055G>C
|
XP_011529075.1:p.Val1019Leu
|
|
XM_011530775.1:c.3547+1402G>C
|
XP_011529077.1:n.3547+1402G>C
|
|
XM_006724579.3:c.3862G>C
|
XP_006724642.1:p.Val1288Leu
|
|
XM_006724580.3:c.3151G>C
|
XP_006724643.1:p.Val1051Leu
|
|
XM_006724581.4:c.3597+863G>C
|
XP_006724644.1:n.3597+863G>C
|
|
XM_006724582.4:c.3597+863G>C
|
XP_006724645.1:n.3597+863G>C
|
|
XM_006724583.4:c.3547+1402G>C
|
XP_006724646.1:n.3547+1402G>C
|
|
XM_006724584.3:c.*251G>C
|
XP_006724647.1:n.*251G>C
|
|
XM_011530773.2:c.3055G>C
|
XP_011529075.1:p.Val1019Leu
|
|
XM_017029359.2:c.3736G>C
|
XP_016884848.1:p.Val1246Leu
|
|
XM_017029360.1:c.3268G>C
|
XP_016884849.1:p.Val1090Leu
|
|
NM_001111125.3:c.3766G>C
MANE Select
|
NP_001104595.1:p.Val1256Leu
|
|
NM_015075.2:c.*251G>C
|
NP_055890.1:n.*251G>C
|
|