ENST00000700029.2:c.1198G>C
|
ENSP00000514759.2:p.Val400Leu
|
|
ENST00000710265.1:c.*134G>C
|
ENSP00000518161.1:n.*134G>C
|
|
ENST00000688158.2:n.1840G>C
|
|
|
ENST00000688922.2:c.*935G>C
|
ENSP00000508742.2:n.*935G>C
|
|
ENST00000700021.1:c.1060G>C
|
ENSP00000514757.1:p.Val354Leu
|
|
ENST00000700022.1:c.*444G>C
|
ENSP00000514758.1:n.*444G>C
|
|
ENST00000700023.1:n.2263G>C
|
|
|
ENST00000700024.1:n.2497G>C
|
|
|
ENST00000706954.1:c.1105G>C
|
ENSP00000516674.1:p.Val369Leu
|
|
ENST00000706955.1:c.*1140G>C
|
ENSP00000516675.1:n.*1140G>C
|
|
ENST00000686459.1:c.*691G>C
|
ENSP00000508909.1:n.*691G>C
|
|
ENST00000688158.1:c.*1216G>C
|
ENSP00000509254.1:n.*1216G>C
|
|
ENST00000688308.1:c.1105G>C
|
ENSP00000508752.1:p.Val369Leu
|
|
ENST00000688922.1:c.1026G>C
|
|
|
ENST00000693560.1:c.1624G>C
|
ENSP00000509861.1:p.Val542Leu
|
|
ENST00000371953.8:c.1105G>C
MANE Select
|
ENSP00000361021.3:p.Val369Leu
|
|
ENST00000371953.7:c.1105G>C
|
ENSP00000361021.3:p.Val369Leu
|
|
NM_000314.5:c.1105G>C
|
NP_000305.3:p.Val369Leu
|
|
NM_000314.6:c.1105G>C
|
NP_000305.3:p.Val369Leu
|
|
NM_001304717.2:c.1624G>C
|
NP_001291646.2:p.Val542Leu
|
|
NM_001304718.1:c.514G>C
|
NP_001291647.1:p.Val172Leu
|
|
XM_006717926.2:c.1060G>C
|
XP_006717989.1:p.Val354Leu
|
|
XM_011539982.1:c.1009G>C
|
XP_011538284.1:p.Val337Leu
|
|
XR_945791.1:n.1675G>C
|
|
|
NM_000314.7:c.1105G>C
|
NP_000305.3:p.Val369Leu
|
|
NM_001304717.5:c.1624G>C
|
NP_001291646.4:p.Val542Leu
|
|
NM_001304718.2:c.514G>C
|
NP_001291647.1:p.Val172Leu
|
|
NM_000314.8:c.1105G>C
MANE Select
|
NP_000305.3:p.Val369Leu
|
|