|
ENST00000504687.7:c.1068G>C
|
ENSP00000426535.3:p.Lys356Asn
|
|
|
ENST00000498722.3:n.858G>C
|
|
|
|
ENST00000682650.1:c.1608+439G>C
|
ENSP00000506904.1:n.1608+439G>C
|
|
|
ENST00000683032.1:c.1626G>C
|
ENSP00000506771.1:p.Lys542Asn
|
|
|
ENST00000684195.1:c.1597G>C
|
ENSP00000508220.1:p.Ala533Pro
|
|
|
ENST00000361308.9:c.1626G>C
|
ENSP00000355292.6:p.Lys542Asn
|
|
|
ENST00000368300.9:c.1626G>C
MANE Select
|
ENSP00000357283.4:p.Lys542Asn
|
|
|
ENST00000496738.6:n.2085G>C
|
|
|
|
ENST00000674518.1:c.*976G>C
|
ENSP00000502261.1:n.*976G>C
|
|
|
ENST00000674600.1:c.*1425G>C
|
ENSP00000501666.1:n.*1425G>C
|
|
|
ENST00000674720.1:c.*188G>C
|
ENSP00000502798.1:n.*188G>C
|
|
|
ENST00000675431.1:n.1319G>C
|
|
|
|
ENST00000675455.1:c.*1426G>C
|
ENSP00000501795.1:n.*1426G>C
|
|
|
ENST00000675667.1:c.1626G>C
|
ENSP00000501803.1:p.Lys542Asn
|
|
|
ENST00000675874.1:c.*1097G>C
|
ENSP00000501851.1:n.*1097G>C
|
|
|
ENST00000675881.1:c.*637G>C
|
ENSP00000501670.1:n.*637G>C
|
|
|
ENST00000675939.1:c.1626G>C
|
ENSP00000502256.1:p.Lys542Asn
|
|
|
ENST00000675989.1:n.2485G>C
|
|
|
|
ENST00000676208.1:c.*729G>C
|
ENSP00000502468.1:n.*729G>C
|
|
|
ENST00000676283.1:n.2422G>C
|
|
|
|
ENST00000676385.2:c.1608+439G>C
|
ENSP00000502091.1:n.1608+439G>C
|
|
|
ENST00000676434.1:c.*637G>C
|
ENSP00000501648.1:n.*637G>C
|
|
|
ENST00000677389.1:c.1626G>C
MANE Plus Clinical
|
ENSP00000503633.1:p.Lys542Asn
|
|
|
ENST00000347559.6:c.1608+439G>C
|
ENSP00000292304.3:n.1608+439G>C
|
|
|
ENST00000361308.8:c.1371G>C
|
ENSP00000355292.5:p.Lys457Asn
|
|
|
ENST00000368297.5:c.1383G>C
|
ENSP00000357280.1:p.Lys461Asn
|
|
|
ENST00000368299.7:c.1626G>C
|
ENSP00000357282.3:p.Lys542Asn
|
|
|
ENST00000368300.8:c.1626G>C
|
ENSP00000357283.4:p.Lys542Asn
|
|
|
ENST00000368301.6:c.1626G>C
|
ENSP00000357284.2:p.Lys542Asn
|
|
|
ENST00000448611.6:c.1290G>C
|
ENSP00000395597.2:p.Lys430Asn
|
|
|
ENST00000473598.6:c.1329G>C
|
ENSP00000421821.1:p.Lys443Asn
|
|
|
ENST00000496738.5:n.1095G>C
|
|
|
|
ENST00000498722.2:n.858G>C
|
|
|
|
ENST00000506981.1:n.210G>C
|
|
|
|
ENST00000508500.1:c.486+439G>C
|
ENSP00000424977.1:n.486+439G>C
|
|
|
NM_001257374.2:c.1290G>C
|
NP_001244303.1:p.Lys430Asn
|
|
|
NM_001282624.1:c.1383G>C
|
NP_001269553.1:p.Lys461Asn
|
|
|
NM_001282625.1:c.1626G>C
|
NP_001269554.1:p.Lys542Asn
|
|
|
NM_001282626.1:c.1626G>C
|
NP_001269555.1:p.Lys542Asn
|
|
|
NM_005572.3:c.1626G>C , LRG_254t1:c.1626G>C
|
NP_005563.1:p.Lys542Asn
|
|
|
NM_170707.3:c.1626G>C
|
NP_733821.1:p.Lys542Asn
|
|
|
NM_170708.3:c.1608+439G>C
|
NP_733822.1:n.1608+439G>C
|
|
|
XM_011509533.1:c.1290G>C
|
XP_011507835.1:p.Lys430Asn
|
|
|
XM_011509534.1:c.1002G>C
|
XP_011507836.1:p.Lys334Asn
|
|
|
XR_921781.1:n.1915G>C
|
|
|
|
XM_011509534.2:c.1002G>C
|
XP_011507836.1:p.Lys334Asn
|
|
|
XR_921781.2:n.1913G>C
|
|
|
|
NM_170707.4:c.1626G>C
MANE Select
|
NP_733821.1:p.Lys542Asn
|
|
|
NM_001257374.3:c.1290G>C
|
NP_001244303.1:p.Lys430Asn
|
|
|
NM_001282626.2:c.1626G>C
|
NP_001269555.1:p.Lys542Asn
|
|
|
NM_001282624.2:c.1383G>C
|
NP_001269553.1:p.Lys461Asn
|
|
|
NM_001282625.2:c.1626G>C
|
NP_001269554.1:p.Lys542Asn
|
|
|
NM_005572.4:c.1626G>C
MANE Plus Clinical
|
NP_005563.1:p.Lys542Asn
|
|
|
NM_170708.4:c.1608+439G>C
|
NP_733822.1:n.1608+439G>C
|
|
