ENST00000465011.2:c.*688G>T
|
ENSP00000419009.1:n.*688G>T
|
|
ENST00000467655.2:c.*140G>T
|
ENSP00000418547.2:n.*140G>T
|
|
ENST00000704365.1:c.1053G>T
|
ENSP00000515873.1:p.Trp351Cys
|
|
ENST00000704366.1:c.951G>T
|
ENSP00000515874.1:p.Trp317Cys
|
|
ENST00000704367.1:c.926-152G>T
|
ENSP00000515875.1:n.926-152G>T
|
|
ENST00000704368.1:n.1546G>T
|
|
|
ENST00000704369.1:c.567G>T
|
ENSP00000515876.1:p.Trp189Cys
|
|
ENST00000704370.1:c.1047G>T
|
ENSP00000515877.1:p.Trp349Cys
|
|
ENST00000704372.1:n.1407G>T
|
|
|
ENST00000704444.1:c.837G>T
|
ENSP00000515896.1:p.Trp279Cys
|
|
ENST00000704445.1:c.705G>T
|
ENSP00000515897.1:p.Trp235Cys
|
|
ENST00000704446.1:c.1048+463G>T
|
ENSP00000515898.1:n.1048+463G>T
|
|
ENST00000341893.8:c.1053G>T
MANE Select
|
ENSP00000342510.3:p.Trp351Cys
|
|
ENST00000341893.7:c.1053G>T
|
ENSP00000342510.3:p.Trp351Cys
|
|
ENST00000467655.1:c.668G>T
|
ENSP00000418547.1:n.668G>T
|
|
ENST00000489172.5:n.1035G>T
|
|
|
ENST00000494050.5:c.1028-152G>T
|
ENSP00000418185.1:n.1028-152G>T
|
|
NM_001303401.1:c.1028-152G>T
|
NP_001290330.1:n.1028-152G>T
|
|
NM_024548.3:c.1053G>T
|
NP_078824.2:p.Trp351Cys
|
|
XM_006713743.2:c.951G>T
|
XP_006713806.1:p.Trp317Cys
|
|
XM_011513125.1:c.837G>T
|
XP_011511427.1:p.Trp279Cys
|
|
XM_011513126.1:c.837G>T
|
XP_011511428.1:p.Trp279Cys
|
|
XM_011513127.1:c.705G>T
|
XP_011511429.1:p.Trp235Cys
|
|
XM_006713743.4:c.951G>T
|
XP_006713806.1:p.Trp317Cys
|
|
XM_017007178.2:c.926-152G>T
|
XP_016862667.1:n.926-152G>T
|
|
NM_024548.4:c.1053G>T
MANE Select
|
NP_078824.2:p.Trp351Cys
|
|
NM_001303401.2:c.1028-152G>T
|
NP_001290330.1:n.1028-152G>T
|
|