ENST00000686218.1:c.478G>C
|
ENSP00000509288.1:p.Val160Leu
|
|
ENST00000691144.1:n.2384G>C
|
|
|
ENST00000691249.1:n.1227G>C
|
|
|
ENST00000442944.7:c.625G>C
|
ENSP00000392041.3:p.Val209Leu
|
|
ENST00000536813.6:c.592G>C
|
ENSP00000438726.2:p.Val198Leu
|
|
ENST00000546302.6:c.565G>C
|
ENSP00000445599.1:p.Val189Leu
|
|
ENST00000640813.1:c.462-249G>C
|
ENSP00000491061.1:n.462-249G>C
|
|
ENST00000648026.1:c.537G>C
|
ENSP00000498044.1:p.Leu179=
|
|
ENST00000648374.1:c.592G>C
|
ENSP00000497255.1:p.Val198Leu
|
|
ENST00000648488.1:c.*116G>C
|
ENSP00000498079.1:n.*116G>C
|
|
ENST00000649823.1:n.860G>C
|
|
|
ENST00000650101.1:c.574G>C
|
ENSP00000496970.1:p.Val192Leu
|
|
ENST00000650307.1:n.1469G>C
|
|
|
ENST00000652429.1:c.643G>C
MANE Select
|
ENSP00000498786.1:p.Val215Leu
|
|
ENST00000278715.7:c.643G>C
|
ENSP00000278715.3:p.Val215Leu
|
|
ENST00000392841.1:c.592G>C
|
ENSP00000376584.1:p.Val198Leu
|
|
ENST00000442944.6:c.592G>C
|
ENSP00000392041.2:p.Val198Leu
|
|
ENST00000537841.5:c.592G>C
|
ENSP00000444730.1:p.Val198Leu
|
|
ENST00000542044.5:n.1088G>C
|
|
|
ENST00000542345.5:n.781G>C
|
|
|
ENST00000542729.5:c.592G>C
|
ENSP00000443058.1:p.Val198Leu
|
|
ENST00000543090.5:c.559-249G>C
|
ENSP00000445429.1:n.559-249G>C
|
|
ENST00000543543.5:n.878G>C
|
|
|
ENST00000544182.1:n.618G>C
|
|
|
ENST00000544387.5:c.643G>C
|
ENSP00000438424.1:p.Val215Leu
|
|
ENST00000545621.5:c.*538G>C
|
ENSP00000444849.1:n.*538G>C
|
|
ENST00000546226.5:n.931G>C
|
|
|
ENST00000546302.5:c.565G>C
|
ENSP00000445599.1:p.Val189Leu
|
|
NM_000190.3:c.643G>C
|
NP_000181.2:p.Val215Leu
|
|
NM_001024382.1:c.592G>C
|
NP_001019553.1:p.Val198Leu
|
|
NM_001258208.1:c.643G>C
|
NP_001245137.1:p.Val215Leu
|
|
NM_001258209.1:c.592G>C
|
NP_001245138.1:p.Val198Leu
|
|
XM_005271531.1:c.592G>C
|
XP_005271588.1:p.Val198Leu
|
|
XM_005271532.1:c.592G>C
|
XP_005271589.1:p.Val198Leu
|
|
XM_005271533.2:c.589G>C
|
XP_005271590.1:p.Val197Leu
|
|
XM_011542796.1:c.478G>C
|
XP_011541098.1:p.Val160Leu
|
|
NM_000190.4:c.643G>C
MANE Select
|
NP_000181.2:p.Val215Leu
|
|
NM_001024382.2:c.592G>C
|
NP_001019553.1:p.Val198Leu
|
|
XM_005271533.3:c.589G>C
|
XP_005271590.1:p.Val197Leu
|
|
XM_017017629.1:c.592G>C
|
XP_016873118.1:p.Val198Leu
|
|
XM_024448460.1:c.589G>C
|
XP_024304228.1:p.Val197Leu
|
|
NM_001258208.2:c.643G>C
|
NP_001245137.1:p.Val215Leu
|
|
NM_001258209.2:c.592G>C
|
NP_001245138.1:p.Val198Leu
|
|