|
ENST00000550257.7:c.1110G>A
|
ENSP00000447997.3:p.Leu370=
|
|
|
ENST00000340802.12:c.1101G>A
|
ENSP00000345771.6:p.Leu367=
|
|
|
ENST00000359794.11:c.888G>A
MANE Select
|
ENSP00000352842.5:p.Leu296=
|
|
|
ENST00000549941.7:c.843+297G>A
|
ENSP00000446829.3:n.843+297G>A
|
|
|
ENST00000550345.6:c.888G>A
|
ENSP00000450369.2:p.Leu296=
|
|
|
ENST00000550924.6:c.888G>A
|
ENSP00000446945.2:p.Leu296=
|
|
|
ENST00000551339.6:c.888G>A
|
ENSP00000448253.2:p.Leu296=
|
|
|
ENST00000642730.1:c.1197G>A
|
ENSP00000496597.1:p.Leu399=
|
|
|
ENST00000312352.11:c.888G>A
|
ENSP00000309438.7:p.Leu296=
|
|
|
ENST00000340802.10:c.1101G>A
|
ENSP00000345771.6:p.Leu367=
|
|
|
ENST00000359794.9:c.888G>A
|
ENSP00000352842.5:p.Leu296=
|
|
|
ENST00000546465.1:c.86-5436G>A
|
ENSP00000446519.1:n.86-5436G>A
|
|
|
ENST00000546964.5:n.1212G>A
|
|
|
|
ENST00000547581.5:c.*1156G>A
|
ENSP00000447992.1:n.*1156G>A
|
|
|
ENST00000547587.5:c.888G>A
|
ENSP00000449426.1:p.Leu296=
|
|
|
ENST00000551804.5:c.843+297G>A
|
ENSP00000448177.1:n.843+297G>A
|
|
|
ENST00000552989.5:c.*193G>A
|
ENSP00000447774.1:n.*193G>A
|
|
|
NM_000289.5:c.888G>A
|
NP_000280.1:p.Leu296=
|
|
|
NM_001166686.1:c.1101G>A
|
NP_001160158.1:p.Leu367=
|
|
|
NM_001166687.1:c.888G>A
|
NP_001160159.1:p.Leu296=
|
|
|
NM_001166688.1:c.888G>A
|
NP_001160160.1:p.Leu296=
|
|
|
XM_005268974.1:c.1197G>A
|
XP_005269031.1:p.Leu399=
|
|
|
XM_005268975.1:c.1197G>A
|
XP_005269032.1:p.Leu399=
|
|
|
XM_005268976.2:c.1197G>A
|
XP_005269033.1:p.Leu399=
|
|
|
XM_005268977.1:c.1101G>A
|
XP_005269034.1:p.Leu367=
|
|
|
XM_005268978.2:c.1101G>A
|
XP_005269035.1:p.Leu367=
|
|
|
XM_005268979.1:c.1101G>A
|
XP_005269036.1:p.Leu367=
|
|
|
XM_011538487.1:c.1152+297G>A
|
XP_011536789.1:n.1152+297G>A
|
|
|
XM_011538488.1:c.888G>A
|
XP_011536790.1:p.Leu296=
|
|
|
NM_000289.6:c.888G>A
MANE Select
|
NP_000280.1:p.Leu296=
|
|
|
NM_001166686.2:c.1101G>A
|
NP_001160158.1:p.Leu367=
|
|
|
NM_001354735.1:c.1197G>A
|
NP_001341664.1:p.Leu399=
|
|
|
NM_001354736.1:c.1197G>A
|
NP_001341665.1:p.Leu399=
|
|
|
NM_001354737.1:c.1101G>A
|
NP_001341666.1:p.Leu367=
|
|
|
NM_001354738.1:c.1101G>A
|
NP_001341667.1:p.Leu367=
|
|
|
NM_001354739.1:c.1101G>A
|
NP_001341668.1:p.Leu367=
|
|
|
NM_001354740.1:c.1032G>A
|
NP_001341669.1:p.Leu344=
|
|
|
NM_001354741.1:c.912G>A
|
NP_001341670.1:p.Leu304=
|
|
|
NM_001354742.1:c.888G>A
|
NP_001341671.1:p.Leu296=
|
|
|
NM_001354743.1:c.888G>A
|
NP_001341672.1:p.Leu296=
|
|
|
NM_001354744.1:c.888G>A
|
NP_001341673.1:p.Leu296=
|
|
|
NM_001354745.1:c.801G>A
|
NP_001341674.1:p.Leu267=
|
|
|
NM_001354746.1:c.888G>A
|
NP_001341675.1:p.Leu296=
|
|
|
NM_001354747.1:c.738G>A
|
NP_001341676.1:p.Leu246=
|
|
|
NM_001354748.1:c.738G>A
|
NP_001341677.1:p.Leu246=
|
|
|
NM_001363619.1:c.843+297G>A
|
NP_001350548.1:n.843+297G>A
|
|
|
NR_148954.1:n.1325G>A
|
|
|
|
NR_148955.1:n.1961G>A
|
|
|
|
NR_148956.1:n.1251G>A
|
|
|
|
NR_148957.1:n.1325G>A
|
|
|
|
NR_148958.1:n.1073G>A
|
|
|
|
NR_148959.1:n.999G>A
|
|
|
|
XM_005268976.3:c.1197G>A
|
XP_005269033.1:p.Leu399=
|
|
|
XM_017019469.1:c.1056+297G>A
|
XP_016874958.1:n.1056+297G>A
|
|
|
XM_024449020.1:c.1110G>A
|
XP_024304788.1:p.Leu370=
|
|
|
XM_024449021.1:c.987G>A
|
XP_024304789.1:p.Leu329=
|
|
|
XM_024449022.1:c.888G>A
|
XP_024304790.1:p.Leu296=
|
|
|
NM_001166687.2:c.888G>A
|
NP_001160159.1:p.Leu296=
|
|
|
NM_001166688.2:c.888G>A
|
NP_001160160.1:p.Leu296=
|
|
|
NM_001354741.2:c.912G>A
|
NP_001341670.1:p.Leu304=
|
|
|
NM_001354742.2:c.888G>A
|
NP_001341671.1:p.Leu296=
|
|
|
NM_001354743.2:c.888G>A
|
NP_001341672.1:p.Leu296=
|
|
|
NM_001354744.2:c.888G>A
|
NP_001341673.1:p.Leu296=
|
|
|
NM_001354745.2:c.801G>A
|
NP_001341674.1:p.Leu267=
|
|
|
NM_001354746.2:c.888G>A
|
NP_001341675.1:p.Leu296=
|
|
|
NM_001354747.2:c.738G>A
|
NP_001341676.1:p.Leu246=
|
|
|
NM_001354748.2:c.738G>A
|
NP_001341677.1:p.Leu246=
|
|
|
NM_001363619.2:c.843+297G>A
|
NP_001350548.1:n.843+297G>A
|
|
|
NR_148954.2:n.1191G>A
|
|
|
|
NR_148956.2:n.1117G>A
|
|
|
|
NR_148957.2:n.1191G>A
|
|
|
|
NR_148958.2:n.939G>A
|
|
|
|
NR_148959.2:n.865G>A
|
|
|
