|
ENST00000252444.10:c.2026G>C
|
ENSP00000252444.6:p.Val676Leu
|
|
|
ENST00000559340.2:c.1705+709G>C
|
ENSP00000453696.2:n.1705+709G>C
|
|
|
ENST00000560467.2:c.1648G>C
|
ENSP00000453513.2:p.Val550Leu
|
|
|
ENST00000558518.6:c.1768G>C
MANE Select
|
ENSP00000454071.1:p.Val590Leu
|
|
|
ENST00000252444.9:c.2022G>C
|
|
|
|
ENST00000455727.6:c.1264G>C
|
ENSP00000397829.2:p.Val422Leu
|
|
|
ENST00000535915.5:c.1645G>C
|
ENSP00000440520.1:p.Val549Leu
|
|
|
ENST00000545707.5:c.1387G>C
|
ENSP00000437639.1:p.Val463Leu
|
|
|
ENST00000557933.5:c.1768G>C
|
ENSP00000453557.1:p.Val590Leu
|
|
|
ENST00000558013.5:c.1768G>C
|
ENSP00000453346.1:p.Val590Leu
|
|
|
ENST00000558518.5:c.1768G>C
|
ENSP00000454071.1:p.Val590Leu
|
|
|
ENST00000559340.1:c.426+709G>C
|
|
|
|
NM_000527.4:c.1768G>C , LRG_274t1:c.1768G>C
|
NP_000518.1:p.Val590Leu
|
|
|
NM_001195798.1:c.1768G>C
|
NP_001182727.1:p.Val590Leu
|
|
|
NM_001195799.1:c.1645G>C
|
NP_001182728.1:p.Val549Leu
|
|
|
NM_001195800.1:c.1264G>C
|
NP_001182729.1:p.Val422Leu
|
|
|
NM_001195803.1:c.1387G>C
|
NP_001182732.1:p.Val463Leu
|
|
|
XM_011528010.1:c.1768G>C
|
XP_011526312.1:p.Val590Leu
|
|
|
XM_011528011.1:c.1387G>C
|
XP_011526313.1:p.Val463Leu
|
|
|
XR_244074.2:n.1855+709G>C
|
|
|
|
XM_011528010.2:c.1768G>C
|
XP_011526312.1:p.Val590Leu
|
|
|
XR_001753685.2:n.1885G>C
|
|
|
|
XR_001753686.2:n.1822+709G>C
|
|
|
|
NM_000527.5:c.1768G>C
MANE Select
|
NP_000518.1:p.Val590Leu
|
|
|
NM_001195798.2:c.1768G>C
|
NP_001182727.1:p.Val590Leu
|
|
|
NM_001195799.2:c.1645G>C
|
NP_001182728.1:p.Val549Leu
|
|
|
NM_001195800.2:c.1264G>C
|
NP_001182729.1:p.Val422Leu
|
|
|
NM_001195803.2:c.1387G>C
|
NP_001182732.1:p.Val463Leu
|
|
