|
ENST00000700029.2:c.518G>T
|
ENSP00000514759.2:p.Arg173Leu
|
|
|
ENST00000710265.1:c.518G>T
|
ENSP00000518161.1:p.Arg173Leu
|
|
|
ENST00000472832.3:c.518G>T
|
ENSP00000483066.2:p.Arg173Leu
|
|
|
ENST00000688158.2:n.1253G>T
|
|
|
|
ENST00000688922.2:c.*348G>T
|
ENSP00000508742.2:n.*348G>T
|
|
|
ENST00000700021.1:c.473G>T
|
ENSP00000514757.1:p.Arg158Leu
|
|
|
ENST00000700022.1:c.493-5710G>T
|
ENSP00000514758.1:n.493-5710G>T
|
|
|
ENST00000700023.1:n.1676G>T
|
|
|
|
ENST00000700024.1:n.1910G>T
|
|
|
|
ENST00000700025.1:n.1287G>T
|
|
|
|
ENST00000700029.1:c.352G>T
|
|
|
|
ENST00000706954.1:c.518G>T
|
ENSP00000516674.1:p.Arg173Leu
|
|
|
ENST00000706955.1:c.*553G>T
|
ENSP00000516675.1:n.*553G>T
|
|
|
ENST00000686459.1:c.*104G>T
|
ENSP00000508909.1:n.*104G>T
|
|
|
ENST00000688158.1:c.*629G>T
|
ENSP00000509254.1:n.*629G>T
|
|
|
ENST00000688308.1:c.518G>T
|
ENSP00000508752.1:p.Arg173Leu
|
|
|
ENST00000688922.1:c.439G>T
|
|
|
|
ENST00000693560.1:c.1037G>T
|
ENSP00000509861.1:p.Arg346Leu
|
|
|
ENST00000371953.8:c.518G>T
MANE Select
|
ENSP00000361021.3:p.Arg173Leu
|
|
|
ENST00000371953.7:c.518G>T
|
ENSP00000361021.3:p.Arg173Leu
|
|
|
NM_000314.5:c.518G>T
|
NP_000305.3:p.Arg173Leu
|
|
|
NM_000314.6:c.518G>T
|
NP_000305.3:p.Arg173Leu
|
|
|
NM_001304717.2:c.1037G>T
|
NP_001291646.2:p.Arg346Leu
|
|
|
NM_001304718.1:c.-74G>T
|
NP_001291647.1:n.-74G>T
|
|
|
XM_006717926.2:c.473G>T
|
XP_006717989.1:p.Arg158Leu
|
|
|
XM_011539981.1:c.518G>T
|
XP_011538283.1:p.Arg173Leu
|
|
|
XM_011539982.1:c.422G>T
|
XP_011538284.1:p.Arg141Leu
|
|
|
XR_945789.1:n.1389G>T
|
|
|
|
XR_945790.1:n.1506G>T
|
|
|
|
XR_945791.1:n.1205-5710G>T
|
|
|
|
NM_000314.7:c.518G>T
|
NP_000305.3:p.Arg173Leu
|
|
|
NM_001304717.5:c.1037G>T
|
NP_001291646.4:p.Arg346Leu
|
|
|
NM_001304718.2:c.-74G>T
|
NP_001291647.1:n.-74G>T
|
|
|
NM_000314.8:c.518G>T
MANE Select
|
NP_000305.3:p.Arg173Leu
|
|
