|
ENST00000313728.12:c.722-961G>T
|
ENSP00000314599.7:n.722-961G>T
|
|
|
ENST00000346817.10:c.719G>T
|
ENSP00000237865.7:p.Arg240Ile
|
|
|
ENST00000438843.6:c.*305G>T
|
ENSP00000401914.1:n.*305G>T
|
|
|
ENST00000492363.6:c.756G>T
|
ENSP00000512459.1:p.Gln252His
|
|
|
ENST00000696199.1:c.721+4343G>T
|
ENSP00000512481.1:n.721+4343G>T
|
|
|
ENST00000286186.11:c.848G>T
MANE Select
|
ENSP00000286186.6:p.Arg283Ile
|
|
|
ENST00000272879.9:c.848G>T
|
ENSP00000272879.5:p.Arg283Ile
|
|
|
ENST00000286186.10:c.848G>T
|
ENSP00000286186.6:p.Arg283Ile
|
|
|
ENST00000313728.11:c.722-961G>T
|
ENSP00000314599.7:n.722-961G>T
|
|
|
ENST00000346817.9:c.719G>T
|
ENSP00000237865.7:p.Arg240Ile
|
|
|
ENST00000360132.7:c.756G>T
|
ENSP00000353250.3:p.Gln252His
|
|
|
ENST00000438843.5:c.*305G>T
|
ENSP00000401914.1:n.*305G>T
|
|
|
ENST00000448480.1:c.719G>T
|
ENSP00000396835.1:p.Arg240Ile
|
|
|
ENST00000492363.5:n.756G>T
|
|
|
|
NM_001206524.1:c.722-961G>T
|
NP_001193453.1:n.722-961G>T
|
|
|
NM_001206542.1:c.719G>T
|
NP_001193471.1:p.Arg240Ile
|
|
|
NM_001230.4:c.719G>T
|
NP_001221.2:p.Arg240Ile
|
|
|
NM_032974.4:c.848G>T
|
NP_116756.2:p.Arg283Ile
|
|
|
NM_032976.3:c.756G>T
|
NP_116758.1:p.Gln252His
|
|
|
NM_032977.3:c.848G>T , LRG_33t1:c.848G>T
|
NP_116759.2:p.Arg283Ile
|
|
|
XM_005246907.2:c.845G>T
|
XP_005246964.1:p.Arg282Ile
|
|
|
XM_006712796.2:c.98G>T
|
XP_006712859.1:p.Arg33Ile
|
|
|
XM_011511990.1:c.753G>T
|
XP_011510292.1:p.Gln251His
|
|
|
XR_923043.1:n.1052G>T
|
|
|
|
XR_923044.1:n.960G>T
|
|
|
|
XM_006712796.3:c.98G>T
|
XP_006712859.1:p.Arg33Ile
|
|
|
XM_011511990.2:c.753G>T
|
XP_011510292.1:p.Gln251His
|
|
|
XR_923043.2:n.1052G>T
|
|
|
|
XR_923044.2:n.960G>T
|
|
|
|
NM_001206524.2:c.722-961G>T
|
NP_001193453.1:n.722-961G>T
|
|
|
NM_001206542.2:c.719G>T
|
NP_001193471.1:p.Arg240Ile
|
|
|
NM_001230.5:c.719G>T
|
NP_001221.2:p.Arg240Ile
|
|
|
NM_032974.5:c.848G>T
|
NP_116756.2:p.Arg283Ile
|
|
|
NM_032977.4:c.848G>T
MANE Select
|
NP_116759.2:p.Arg283Ile
|
|
|
NM_032976.4:c.756G>T
|
NP_116758.1:p.Gln252His
|
|
