ENST00000465011.2:c.*1058G>C
|
ENSP00000419009.1:n.*1058G>C
|
|
ENST00000467655.2:c.*510G>C
|
ENSP00000418547.2:n.*510G>C
|
|
ENST00000704365.1:c.1423G>C
|
ENSP00000515873.1:p.Val475Leu
|
|
ENST00000704366.1:c.1321G>C
|
ENSP00000515874.1:p.Val441Leu
|
|
ENST00000704367.1:c.1144G>C
|
ENSP00000515875.1:p.Val382Leu
|
|
ENST00000704368.1:n.1916G>C
|
|
|
ENST00000704369.1:c.937G>C
|
ENSP00000515876.1:p.Val313Leu
|
|
ENST00000704370.1:c.1417G>C
|
ENSP00000515877.1:p.Val473Leu
|
|
ENST00000704372.1:n.1777G>C
|
|
|
ENST00000704444.1:c.1207G>C
|
ENSP00000515896.1:p.Val403Leu
|
|
ENST00000704445.1:c.1075G>C
|
ENSP00000515897.1:p.Val359Leu
|
|
ENST00000704446.1:c.1048+833G>C
|
ENSP00000515898.1:n.1048+833G>C
|
|
ENST00000341893.8:c.1423G>C
MANE Select
|
ENSP00000342510.3:p.Val475Leu
|
|
ENST00000341893.7:c.1423G>C
|
ENSP00000342510.3:p.Val475Leu
|
|
ENST00000467655.1:c.1038G>C
|
ENSP00000418547.1:n.1038G>C
|
|
ENST00000489172.5:n.1405G>C
|
|
|
ENST00000494050.5:c.1246G>C
|
ENSP00000418185.1:p.Val416Leu
|
|
NM_001303401.1:c.1246G>C
|
NP_001290330.1:p.Val416Leu
|
|
NM_024548.3:c.1423G>C
|
NP_078824.2:p.Val475Leu
|
|
XM_006713743.2:c.1321G>C
|
XP_006713806.1:p.Val441Leu
|
|
XM_011513125.1:c.1207G>C
|
XP_011511427.1:p.Val403Leu
|
|
XM_011513126.1:c.1207G>C
|
XP_011511428.1:p.Val403Leu
|
|
XM_011513127.1:c.1075G>C
|
XP_011511429.1:p.Val359Leu
|
|
XM_006713743.4:c.1321G>C
|
XP_006713806.1:p.Val441Leu
|
|
XM_017007178.2:c.1144G>C
|
XP_016862667.1:p.Val382Leu
|
|
NM_024548.4:c.1423G>C
MANE Select
|
NP_078824.2:p.Val475Leu
|
|
NM_001303401.2:c.1246G>C
|
NP_001290330.1:p.Val416Leu
|
|