ENST00000585361.6:c.*564G>C
|
ENSP00000466983.1:n.*564G>C
|
|
ENST00000588558.6:c.*702G>C
|
ENSP00000467624.1:n.*702G>C
|
|
ENST00000590253.3:c.*20G>C
|
ENSP00000465111.2:n.*20G>C
|
|
ENST00000593115.2:c.*748G>C
|
ENSP00000466821.1:n.*748G>C
|
|
ENST00000696383.1:c.382G>C
|
ENSP00000512593.1:p.Val128Leu
|
|
ENST00000696384.1:c.*287G>C
|
ENSP00000512594.1:n.*287G>C
|
|
ENST00000696385.1:c.*445G>C
|
ENSP00000512595.1:n.*445G>C
|
|
ENST00000696386.1:c.*20G>C
|
ENSP00000512596.1:n.*20G>C
|
|
ENST00000696387.1:c.*354G>C
|
ENSP00000512597.1:n.*354G>C
|
|
ENST00000696388.1:c.*573G>C
|
ENSP00000512598.1:n.*573G>C
|
|
ENST00000696389.1:c.*758G>C
|
ENSP00000512599.1:n.*758G>C
|
|
ENST00000696390.1:c.517G>C
|
ENSP00000512600.1:p.Val173Leu
|
|
ENST00000696391.1:c.*583G>C
|
ENSP00000512601.1:n.*583G>C
|
|
ENST00000696392.1:c.727G>C
|
ENSP00000512602.1:p.Val243Leu
|
|
ENST00000696393.1:c.727G>C
|
ENSP00000512603.1:p.Val243Leu
|
|
ENST00000696405.1:c.677+278G>C
|
ENSP00000512607.1:n.677+278G>C
|
|
ENST00000269097.9:c.727G>C
MANE Select
|
ENSP00000269097.3:p.Val243Leu
|
|
ENST00000269097.8:c.727G>C
|
ENSP00000269097.3:p.Val243Leu
|
|
ENST00000585361.5:c.*564G>C
|
ENSP00000466983.1:n.*564G>C
|
|
ENST00000588558.5:c.*702G>C
|
ENSP00000467624.1:n.*702G>C
|
|
ENST00000590253.2:c.229G>C
|
|
|
ENST00000590639.1:n.748G>C
|
|
|
ENST00000591696.1:c.619G>C
|
ENSP00000468677.1:p.Val207Leu
|
|
NM_138387.3:c.727G>C , LRG_182t1:c.727G>C
|
NP_612396.1:p.Val243Leu
|
|
NR_028581.1:n.1157G>C
|
|
|
NR_028582.1:n.1022G>C
|
|
|
XM_011525473.1:c.382G>C
|
XP_011523775.1:p.Val128Leu
|
|
XM_011525474.1:c.382G>C
|
XP_011523776.1:p.Val128Leu
|
|
NM_001319945.1:c.*20G>C
|
NP_001306874.1:n.*20G>C
|
|
XM_011525473.3:c.382G>C
|
XP_011523775.1:p.Val128Leu
|
|
XM_011525474.3:c.382G>C
|
XP_011523776.1:p.Val128Leu
|
|
XM_017025335.2:c.382G>C
|
XP_016880824.1:p.Val128Leu
|
|
NM_001319945.2:c.*20G>C
|
NP_001306874.1:n.*20G>C
|
|
NR_028581.2:n.976G>C
|
|
|
NR_028582.2:n.841G>C
|
|
|
NM_001384165.1:c.382G>C
|
NP_001371094.1:p.Val128Leu
|
|
NM_001384166.1:c.382G>C
|
NP_001371095.1:p.Val128Leu
|
|
NM_001384167.1:c.382G>C
|
NP_001371096.1:p.Val128Leu
|
|
NM_001384168.1:c.382G>C
|
NP_001371097.1:p.Val128Leu
|
|
NM_138387.4:c.727G>C
MANE Select
|
NP_612396.1:p.Val243Leu
|
|