|
ENST00000346322.10:c.3542G>A
|
ENSP00000320622.6:p.Arg1181His
|
|
|
ENST00000508240.2:c.149G>A
|
ENSP00000422984.2:p.Arg50His
|
|
|
ENST00000511058.2:n.338G>A
|
|
|
|
ENST00000684879.1:n.1381G>A
|
|
|
|
ENST00000685021.1:c.983G>A
|
ENSP00000508447.1:p.Arg328His
|
|
|
ENST00000685259.1:c.1287G>A
|
|
|
|
ENST00000685907.1:n.1530G>A
|
|
|
|
ENST00000685953.1:c.149G>A
|
ENSP00000510593.1:p.Arg50His
|
|
|
ENST00000686039.1:c.1287G>A
|
|
|
|
ENST00000686245.1:c.866G>A
|
ENSP00000509313.1:p.Arg289His
|
|
|
ENST00000686388.1:n.424G>A
|
|
|
|
ENST00000686406.1:c.3749G>A
|
ENSP00000509044.1:p.Arg1250His
|
|
|
ENST00000686458.1:n.251G>A
|
|
|
|
ENST00000686761.1:c.3749G>A
|
ENSP00000508758.1:p.Arg1250His
|
|
|
ENST00000686822.1:n.3643G>A
|
|
|
|
ENST00000687434.1:c.145G>A
|
ENSP00000509751.1:p.Ala49Thr
|
|
|
ENST00000687709.1:n.1804G>A
|
|
|
|
ENST00000687848.1:c.3779G>A
|
ENSP00000508761.1:p.Arg1260His
|
|
|
ENST00000688024.1:c.983G>A
|
ENSP00000509803.1:p.Arg328His
|
|
|
ENST00000688223.1:c.983G>A
|
ENSP00000508935.1:p.Arg328His
|
|
|
ENST00000689868.1:n.1477G>A
|
|
|
|
ENST00000690167.1:n.1420G>A
|
|
|
|
ENST00000690457.1:c.2987G>A
|
ENSP00000508777.1:p.Arg996His
|
|
|
ENST00000690534.1:n.270G>A
|
|
|
|
ENST00000691933.1:c.1287G>A
|
|
|
|
ENST00000692352.1:c.1287G>A
|
|
|
|
ENST00000693689.1:c.3542G>A
|
ENSP00000510503.1:p.Arg1181His
|
|
|
ENST00000360304.8:c.3749G>A
MANE Select
|
ENSP00000353452.3:p.Arg1250His
|
|
|
ENST00000346322.9:c.3542G>A
|
ENSP00000320622.5:p.Arg1181His
|
|
|
ENST00000354792.9:c.3542G>A
|
ENSP00000346846.6:p.Arg1181His
|
|
|
ENST00000359169.5:c.3749G>A
|
ENSP00000352088.1:p.Arg1250His
|
|
|
ENST00000360304.7:c.3749G>A
|
ENSP00000353452.3:p.Arg1250His
|
|
|
ENST00000360772.7:c.3749G>A
|
ENSP00000354004.3:p.Arg1250His
|
|
|
ENST00000464489.5:c.*3328G>A
|
ENSP00000417798.1:n.*3328G>A
|
|
|
ENST00000475616.5:c.3749G>A
|
ENSP00000418335.1:p.Arg1250His
|
|
|
ENST00000508240.1:c.149G>A
|
ENSP00000422984.1:p.Arg50His
|
|
|
ENST00000510775.5:n.467G>A
|
|
|
|
NM_053025.3:c.3749G>A
|
NP_444253.3:p.Arg1250His
|
|
|
NM_053026.3:c.3542G>A
|
NP_444254.3:p.Arg1181His
|
|
|
NM_053027.3:c.3749G>A
|
NP_444255.3:p.Arg1250His
|
|
|
NM_053028.3:c.3542G>A
|
NP_444256.3:p.Arg1181His
|
|
|
XM_011512860.1:c.3749G>A
|
XP_011511162.1:p.Arg1250His
|
|
|
XM_011512861.1:c.3749G>A
|
XP_011511163.1:p.Arg1250His
|
|
|
XM_011512862.1:c.3221G>A
|
XP_011511164.1:p.Arg1074His
|
|
|
NM_001321309.1:c.3221G>A
|
NP_001308238.1:p.Arg1074His
|
|
|
XM_011512860.3:c.3779G>A
|
XP_011511162.2:p.Arg1260His
|
|
|
XM_011512861.3:c.3779G>A
|
XP_011511163.2:p.Arg1260His
|
|
|
XM_017006469.2:c.983G>A
|
XP_016861958.1:p.Arg328His
|
|
|
XM_017006470.2:c.149G>A
|
XP_016861959.1:p.Arg50His
|
|
|
XM_017006471.2:c.149G>A
|
XP_016861960.1:p.Arg50His
|
|
|
XM_024453532.1:c.3779G>A
|
XP_024309300.1:p.Arg1260His
|
|
|
XM_024453533.1:c.3749G>A
|
XP_024309301.1:p.Arg1250His
|
|
|
XM_024453534.1:c.3572G>A
|
XP_024309302.1:p.Arg1191His
|
|
|
XM_024453535.1:c.3542G>A
|
XP_024309303.1:p.Arg1181His
|
|
|
XM_024453536.1:c.3749G>A
|
XP_024309304.1:p.Arg1250His
|
|
|
XM_024453537.1:c.3749G>A
|
XP_024309305.1:p.Arg1250His
|
|
|
NM_001321309.2:c.3221G>A
|
NP_001308238.1:p.Arg1074His
|
|
|
NM_053025.4:c.3749G>A
MANE Select
|
NP_444253.3:p.Arg1250His
|
|
|
NM_053026.4:c.3542G>A
|
NP_444254.3:p.Arg1181His
|
|
|
NM_053027.4:c.3749G>A
|
NP_444255.3:p.Arg1250His
|
|
|
NM_053028.4:c.3542G>A
|
NP_444256.3:p.Arg1181His
|
|
