ENST00000465011.2:c.*997G>C
|
ENSP00000419009.1:n.*997G>C
|
|
ENST00000467655.2:c.*449G>C
|
ENSP00000418547.2:n.*449G>C
|
|
ENST00000704365.1:c.1362G>C
|
ENSP00000515873.1:p.Gln454His
|
|
ENST00000704366.1:c.1260G>C
|
ENSP00000515874.1:p.Gln420His
|
|
ENST00000704367.1:c.1083G>C
|
ENSP00000515875.1:p.Gln361His
|
|
ENST00000704368.1:n.1855G>C
|
|
|
ENST00000704369.1:c.876G>C
|
ENSP00000515876.1:p.Gln292His
|
|
ENST00000704370.1:c.1356G>C
|
ENSP00000515877.1:p.Gln452His
|
|
ENST00000704372.1:n.1716G>C
|
|
|
ENST00000704444.1:c.1146G>C
|
ENSP00000515896.1:p.Gln382His
|
|
ENST00000704445.1:c.1014G>C
|
ENSP00000515897.1:p.Gln338His
|
|
ENST00000704446.1:c.1048+772G>C
|
ENSP00000515898.1:n.1048+772G>C
|
|
ENST00000341893.8:c.1362G>C
MANE Select
|
ENSP00000342510.3:p.Gln454His
|
|
ENST00000341893.7:c.1362G>C
|
ENSP00000342510.3:p.Gln454His
|
|
ENST00000467655.1:c.977G>C
|
ENSP00000418547.1:n.977G>C
|
|
ENST00000489172.5:n.1344G>C
|
|
|
ENST00000494050.5:c.1185G>C
|
ENSP00000418185.1:p.Gln395His
|
|
NM_001303401.1:c.1185G>C
|
NP_001290330.1:p.Gln395His
|
|
NM_024548.3:c.1362G>C
|
NP_078824.2:p.Gln454His
|
|
XM_006713743.2:c.1260G>C
|
XP_006713806.1:p.Gln420His
|
|
XM_011513125.1:c.1146G>C
|
XP_011511427.1:p.Gln382His
|
|
XM_011513126.1:c.1146G>C
|
XP_011511428.1:p.Gln382His
|
|
XM_011513127.1:c.1014G>C
|
XP_011511429.1:p.Gln338His
|
|
XM_006713743.4:c.1260G>C
|
XP_006713806.1:p.Gln420His
|
|
XM_017007178.2:c.1083G>C
|
XP_016862667.1:p.Gln361His
|
|
NM_024548.4:c.1362G>C
MANE Select
|
NP_078824.2:p.Gln454His
|
|
NM_001303401.2:c.1185G>C
|
NP_001290330.1:p.Gln395His
|
|