|
ENST00000252444.10:c.2574G>C
|
ENSP00000252444.6:p.Leu858=
|
|
|
ENST00000559340.2:c.*385G>C
|
ENSP00000453696.2:n.*385G>C
|
|
|
ENST00000560467.2:c.2196G>C
|
ENSP00000453513.2:p.Leu732=
|
|
|
ENST00000558518.6:c.2316G>C
MANE Select
|
ENSP00000454071.1:p.Leu772=
|
|
|
ENST00000252444.9:c.2570G>C
|
|
|
|
ENST00000455727.6:c.1812G>C
|
ENSP00000397829.2:p.Leu604=
|
|
|
ENST00000535915.5:c.2193G>C
|
ENSP00000440520.1:p.Leu731=
|
|
|
ENST00000545707.5:c.1782G>C
|
ENSP00000437639.1:p.Leu594=
|
|
|
ENST00000557933.5:c.2316G>C
|
ENSP00000453557.1:p.Leu772=
|
|
|
ENST00000558013.5:c.2316G>C
|
ENSP00000453346.1:p.Leu772=
|
|
|
ENST00000558518.5:c.2316G>C
|
ENSP00000454071.1:p.Leu772=
|
|
|
ENST00000560628.1:n.108+358G>C
|
|
|
|
NM_000527.4:c.2316G>C , LRG_274t1:c.2316G>C
|
NP_000518.1:p.Leu772=
|
|
|
NM_001195798.1:c.2316G>C
|
NP_001182727.1:p.Leu772=
|
|
|
NM_001195799.1:c.2193G>C
|
NP_001182728.1:p.Leu731=
|
|
|
NM_001195800.1:c.1812G>C
|
NP_001182729.1:p.Leu604=
|
|
|
NM_001195803.1:c.1782G>C
|
NP_001182732.1:p.Leu594=
|
|
|
XM_011528010.1:c.2312-1501G>C
|
XP_011526312.1:n.2312-1501G>C
|
|
|
XM_011528011.1:c.1935G>C
|
XP_011526313.1:p.Leu645=
|
|
|
XR_244074.2:n.2326G>C
|
|
|
|
XM_011528010.2:c.2312-1501G>C
|
XP_011526312.1:n.2312-1501G>C
|
|
|
XR_001753685.2:n.2650G>C
|
|
|
|
XR_001753686.2:n.2293G>C
|
|
|
|
NM_000527.5:c.2316G>C
MANE Select
|
NP_000518.1:p.Leu772=
|
|
|
NM_001195798.2:c.2316G>C
|
NP_001182727.1:p.Leu772=
|
|
|
NM_001195799.2:c.2193G>C
|
NP_001182728.1:p.Leu731=
|
|
|
NM_001195800.2:c.1812G>C
|
NP_001182729.1:p.Leu604=
|
|
|
NM_001195803.2:c.1782G>C
|
NP_001182732.1:p.Leu594=
|
|
