ENST00000465011.2:c.*689G>C
|
ENSP00000419009.1:n.*689G>C
|
|
ENST00000467655.2:c.*141G>C
|
ENSP00000418547.2:n.*141G>C
|
|
ENST00000704365.1:c.1054G>C
|
ENSP00000515873.1:p.Val352Leu
|
|
ENST00000704366.1:c.952G>C
|
ENSP00000515874.1:p.Val318Leu
|
|
ENST00000704367.1:c.926-151G>C
|
ENSP00000515875.1:n.926-151G>C
|
|
ENST00000704368.1:n.1547G>C
|
|
|
ENST00000704369.1:c.568G>C
|
ENSP00000515876.1:p.Val190Leu
|
|
ENST00000704370.1:c.1048G>C
|
ENSP00000515877.1:p.Val350Leu
|
|
ENST00000704372.1:n.1408G>C
|
|
|
ENST00000704444.1:c.838G>C
|
ENSP00000515896.1:p.Val280Leu
|
|
ENST00000704445.1:c.706G>C
|
ENSP00000515897.1:p.Val236Leu
|
|
ENST00000704446.1:c.1048+464G>C
|
ENSP00000515898.1:n.1048+464G>C
|
|
ENST00000341893.8:c.1054G>C
MANE Select
|
ENSP00000342510.3:p.Val352Leu
|
|
ENST00000341893.7:c.1054G>C
|
ENSP00000342510.3:p.Val352Leu
|
|
ENST00000467655.1:c.669G>C
|
ENSP00000418547.1:n.669G>C
|
|
ENST00000489172.5:n.1036G>C
|
|
|
ENST00000494050.5:c.1028-151G>C
|
ENSP00000418185.1:n.1028-151G>C
|
|
NM_001303401.1:c.1028-151G>C
|
NP_001290330.1:n.1028-151G>C
|
|
NM_024548.3:c.1054G>C
|
NP_078824.2:p.Val352Leu
|
|
XM_006713743.2:c.952G>C
|
XP_006713806.1:p.Val318Leu
|
|
XM_011513125.1:c.838G>C
|
XP_011511427.1:p.Val280Leu
|
|
XM_011513126.1:c.838G>C
|
XP_011511428.1:p.Val280Leu
|
|
XM_011513127.1:c.706G>C
|
XP_011511429.1:p.Val236Leu
|
|
XM_006713743.4:c.952G>C
|
XP_006713806.1:p.Val318Leu
|
|
XM_017007178.2:c.926-151G>C
|
XP_016862667.1:n.926-151G>C
|
|
NM_024548.4:c.1054G>C
MANE Select
|
NP_078824.2:p.Val352Leu
|
|
NM_001303401.2:c.1028-151G>C
|
NP_001290330.1:n.1028-151G>C
|
|