|
ENST00000647720.2:c.*227G>C
|
ENSP00000497673.2:n.*227G>C
|
|
|
ENST00000647978.2:c.*3732G>C
|
ENSP00000497658.1:n.*3732G>C
|
|
|
ENST00000649781.2:c.3835G>C
|
ENSP00000497203.1:p.Val1279Leu
|
|
|
ENST00000685018.2:c.*231G>C
|
ENSP00000510194.2:n.*231G>C
|
|
|
ENST00000687278.2:c.*671G>C
|
ENSP00000509593.2:n.*671G>C
|
|
|
ENST00000699585.1:c.*227G>C
|
ENSP00000514456.1:n.*227G>C
|
|
|
ENST00000699598.1:c.4018G>C
|
ENSP00000514467.1:p.Val1340Leu
|
|
|
ENST00000699599.1:c.*231G>C
|
ENSP00000514468.1:n.*231G>C
|
|
|
ENST00000699600.1:c.*679G>C
|
ENSP00000514469.1:n.*679G>C
|
|
|
ENST00000699601.1:c.*2393G>C
|
ENSP00000514470.1:n.*2393G>C
|
|
|
ENST00000699602.1:c.4012G>C
|
ENSP00000514471.1:p.Val1338Leu
|
|
|
ENST00000699604.1:c.*3842G>C
|
ENSP00000514472.1:n.*3842G>C
|
|
|
ENST00000699605.1:c.3592G>C
|
ENSP00000514473.1:p.Val1198Leu
|
|
|
ENST00000699606.1:n.2186G>C
|
|
|
|
ENST00000685018.1:c.882G>C
|
ENSP00000510194.1:n.882G>C
|
|
|
ENST00000687278.1:c.1805G>C
|
ENSP00000509593.1:n.1805G>C
|
|
|
ENST00000689011.1:c.600G>C
|
|
|
|
ENST00000003084.11:c.4018G>C
MANE Select
|
ENSP00000003084.6:p.Val1340Leu
|
|
|
ENST00000647720.1:c.1468G>C
|
|
|
|
ENST00000649781.1:c.3835G>C
|
ENSP00000497203.1:p.Val1279Leu
|
|
|
ENST00000003084.10:c.4018G>C
|
ENSP00000003084.6:p.Val1340Leu
|
|
|
ENST00000426809.5:c.3928G>C
|
ENSP00000389119.1:p.Val1310Leu
|
|
|
ENST00000600166.1:c.144G>C
|
|
|
|
NM_000492.3:c.4018G>C , LRG_663t1:c.4018G>C
|
NP_000483.3:p.Val1340Leu
|
|
|
XM_011515751.1:c.4108G>C
|
XP_011514053.1:p.Val1370Leu
|
|
|
XM_011515752.1:c.4108G>C
|
XP_011514054.1:p.Val1370Leu
|
|
|
XM_011515753.1:c.3775G>C
|
XP_011514055.1:p.Val1259Leu
|
|
|
XM_011515754.1:c.3775G>C
|
XP_011514056.1:p.Val1259Leu
|
|
|
NM_000492.4:c.4018G>C
MANE Select
|
NP_000483.3:p.Val1340Leu
|
|
