ENST00000413620.6:c.712G>C
|
ENSP00000398579.2:p.Val238Leu
|
|
ENST00000422680.6:c.748G>C
|
ENSP00000390368.3:p.Val250Leu
|
|
ENST00000440286.6:c.748G>C
|
ENSP00000394934.2:p.Val250Leu
|
|
ENST00000445622.6:c.748G>C
|
ENSP00000395205.2:p.Val250Leu
|
|
ENST00000615186.5:c.346G>C
|
ENSP00000479144.2:p.Val116Leu
|
|
ENST00000686774.1:c.*129G>C
|
ENSP00000510218.1:n.*129G>C
|
|
ENST00000687445.1:n.1120G>C
|
|
|
ENST00000689906.1:c.595G>C
|
ENSP00000508630.1:p.Val199Leu
|
|
ENST00000692948.1:c.805G>C
|
ENSP00000508773.1:p.Val269Leu
|
|
ENST00000693029.1:n.1123G>C
|
|
|
ENST00000594239.6:c.748G>C
MANE Select
|
ENSP00000471166.1:p.Val250Leu
|
|
ENST00000440286.5:c.748G>C
|
ENSP00000394934.1:p.Val250Leu
|
|
ENST00000594239.5:c.748G>C
|
ENSP00000471166.1:p.Val250Leu
|
|
ENST00000611071.4:c.748G>C
|
ENSP00000479662.1:p.Val250Leu
|
|
ENST00000611176.4:c.595G>C
|
ENSP00000478616.1:p.Val199Leu
|
|
ENST00000612051.1:c.*740G>C
|
ENSP00000480431.1:n.*740G>C
|
|
ENST00000615874.4:c.744+1G>C
|
ENSP00000483381.1:n.744+1G>C
|
|
ENST00000617207.4:c.745G>C
|
ENSP00000484023.1:p.Val249Leu
|
|
ENST00000617838.1:n.200-1046G>C
|
|
|
ENST00000618670.4:c.952G>C
|
ENSP00000483825.1:p.Val318Leu
|
|
ENST00000619941.4:c.747+1G>C
|
ENSP00000478979.1:n.747+1G>C
|
|
NM_001099856.3:c.952G>C
|
NP_001093326.2:p.Val318Leu
|
|
NM_001099857.2:c.748G>C
|
NP_001093327.1:p.Val250Leu
|
|
NM_001145255.2:c.595G>C
|
NP_001138727.1:p.Val199Leu
|
|
NM_003639.4:c.748G>C
|
NP_003630.1:p.Val250Leu
|
|
XM_005274760.3:c.949G>C
|
XP_005274817.1:p.Val317Leu
|
|
XM_005274761.3:c.952G>C
|
XP_005274818.1:p.Val318Leu
|
|
XM_005274764.3:c.745G>C
|
XP_005274821.1:p.Val249Leu
|
|
XM_011531203.1:c.799G>C
|
XP_011529505.1:p.Val267Leu
|
|
XM_011531204.1:c.748G>C
|
XP_011529506.1:p.Val250Leu
|
|
XM_011531205.1:c.748G>C
|
XP_011529507.1:p.Val250Leu
|
|
NM_001099856.4:c.952G>C
|
NP_001093326.2:p.Val318Leu
|
|
NM_001321396.1:c.748G>C
|
NP_001308325.1:p.Val250Leu
|
|
NM_001321397.1:c.745G>C
|
NP_001308326.1:p.Val249Leu
|
|
NM_001099856.6:c.952G>C
|
NP_001093326.2:p.Val318Leu
|
|
NM_001099857.4:c.748G>C
|
NP_001093327.1:p.Val250Leu
|
|
NM_001145255.4:c.595G>C
|
NP_001138727.1:p.Val199Leu
|
|
NM_001321396.3:c.748G>C
|
NP_001308325.1:p.Val250Leu
|
|
NM_001321397.3:c.745G>C
|
NP_001308326.1:p.Val249Leu
|
|
NM_001377312.1:c.748G>C
|
NP_001364241.1:p.Val250Leu
|
|
NM_001377313.1:c.745G>C
|
NP_001364242.1:p.Val249Leu
|
|
NM_001377314.1:c.592G>C
|
NP_001364243.1:p.Val198Leu
|
|
NM_001377315.1:c.400-1046G>C
|
NP_001364244.1:n.400-1046G>C
|
|
NR_165197.1:n.617G>C
|
|
|
NM_001099857.5:c.748G>C
MANE Select
|
NP_001093327.1:p.Val250Leu
|
|