ENST00000377453.9:c.943G>C
(CLN5)
MANE Select
|
ENSP00000366673.5:p.Val315Leu
|
|
ENST00000616833.6:c.*385G>C
(CLN5)
|
ENSP00000479547.3:n.*385G>C
|
|
ENST00000635838.1:c.174+4708G>C
|
|
|
ENST00000635905.1:n.566+4708G>C
(CLN5)
|
|
|
ENST00000635915.1:c.941G>C
(CLN5)
|
|
|
ENST00000636183.2:c.943G>C
(CLN5)
|
ENSP00000490181.2:p.Val315Leu
|
|
ENST00000636525.2:c.565+4708G>C
(CLN5)
|
ENSP00000490078.2:n.565+4708G>C
|
|
ENST00000636681.1:c.*634G>C
(CLN5)
|
ENSP00000489922.1:n.*634G>C
|
|
ENST00000636705.1:c.779G>C
(CLN5)
|
|
|
ENST00000636767.2:c.565+4708G>C
(CLN5)
|
ENSP00000489855.2:n.565+4708G>C
|
|
ENST00000636780.2:c.*392G>C
(CLN5)
|
ENSP00000489809.2:n.*392G>C
|
|
ENST00000637192.1:c.213+4708G>C
|
|
|
ENST00000637278.1:n.1269G>C
(CLN5)
|
|
|
ENST00000637397.2:c.565+4708G>C
(CLN5)
|
ENSP00000490422.2:n.565+4708G>C
|
|
ENST00000638101.1:c.169+4708G>C
|
ENSP00000490535.1:n.169+4708G>C
|
|
ENST00000638147.2:c.565+4708G>C
|
ENSP00000490953.2:n.565+4708G>C
|
|
ENST00000377453.7:c.1090G>C
(CLN5)
|
ENSP00000366673.3:p.Val364Leu
|
|
ENST00000477982.2:n.1474C>G
(FBXL3)
|
|
|
ENST00000485797.2:n.174-7884C>G
(FBXL3)
|
|
|
ENST00000616833.4:c.943G>C
(CLN5)
|
ENSP00000479547.1:p.Val315Leu
|
|
NM_006493.2:c.1090G>C , LRG_692t1:c.1090G>C
(CLN5)
|
NP_006484.1:p.Val364Leu
|
|
NM_001366624.1:c.*392G>C
(CLN5)
|
NP_001353553.1:n.*392G>C
|
|
NM_006493.3:c.943G>C
(CLN5)
|
NP_006484.2:p.Val315Leu
|
|
XM_017020538.2:c.644-7884C>G
(FBXL3)
|
XP_016876027.1:n.644-7884C>G
|
|
NM_001366624.2:c.*392G>C
(CLN5)
|
NP_001353553.1:n.*392G>C
|
|
NM_006493.4:c.943G>C
(CLN5)
MANE Select
|
NP_006484.2:p.Val315Leu
|
|