|
ENST00000647720.2:c.3517+75G>C
|
ENSP00000497673.2:n.3517+75G>C
|
|
|
ENST00000647978.2:c.*3306G>C
|
ENSP00000497658.1:n.*3306G>C
|
|
|
ENST00000649781.2:c.3409G>C
|
ENSP00000497203.1:p.Val1137Leu
|
|
|
ENST00000685018.2:c.3592G>C
|
ENSP00000510194.2:p.Val1198Leu
|
|
|
ENST00000687278.2:c.*245G>C
|
ENSP00000509593.2:n.*245G>C
|
|
|
ENST00000699585.1:c.3517+75G>C
|
ENSP00000514456.1:n.3517+75G>C
|
|
|
ENST00000699598.1:c.3592G>C
|
ENSP00000514467.1:p.Val1198Leu
|
|
|
ENST00000699599.1:c.3592G>C
|
ENSP00000514468.1:p.Val1198Leu
|
|
|
ENST00000699600.1:c.*253G>C
|
ENSP00000514469.1:n.*253G>C
|
|
|
ENST00000699601.1:c.*1967G>C
|
ENSP00000514470.1:n.*1967G>C
|
|
|
ENST00000699602.1:c.3586G>C
|
ENSP00000514471.1:p.Val1196Leu
|
|
|
ENST00000699604.1:c.*3416G>C
|
ENSP00000514472.1:n.*3416G>C
|
|
|
ENST00000699605.1:c.3166G>C
|
ENSP00000514473.1:p.Val1056Leu
|
|
|
ENST00000685018.1:c.340G>C
|
ENSP00000510194.1:p.Val114Leu
|
|
|
ENST00000687278.1:c.1379G>C
|
ENSP00000509593.1:n.1379G>C
|
|
|
ENST00000689011.1:c.174G>C
|
|
|
|
ENST00000003084.11:c.3592G>C
MANE Select
|
ENSP00000003084.6:p.Val1198Leu
|
|
|
ENST00000647720.1:c.1167+75G>C
|
|
|
|
ENST00000648260.1:c.2374G>C
|
ENSP00000497957.1:p.Val792Leu
|
|
|
ENST00000649406.1:c.3409G>C
|
ENSP00000497965.1:p.Val1137Leu
|
|
|
ENST00000649781.1:c.3409G>C
|
ENSP00000497203.1:p.Val1137Leu
|
|
|
ENST00000003084.10:c.3592G>C
|
ENSP00000003084.6:p.Val1198Leu
|
|
|
ENST00000426809.5:c.3502G>C
|
ENSP00000389119.1:p.Val1168Leu
|
|
|
ENST00000468795.1:c.417G>C
|
|
|
|
NM_000492.3:c.3592G>C , LRG_663t1:c.3592G>C
|
NP_000483.3:p.Val1198Leu
|
|
|
XM_011515751.1:c.3682G>C
|
XP_011514053.1:p.Val1228Leu
|
|
|
XM_011515752.1:c.3682G>C
|
XP_011514054.1:p.Val1228Leu
|
|
|
XM_011515753.1:c.3349G>C
|
XP_011514055.1:p.Val1117Leu
|
|
|
XM_011515754.1:c.3349G>C
|
XP_011514056.1:p.Val1117Leu
|
|
|
NM_000492.4:c.3592G>C
MANE Select
|
NP_000483.3:p.Val1198Leu
|
|
