|
ENST00000313728.12:c.722-910G>C
|
ENSP00000314599.7:n.722-910G>C
|
|
|
ENST00000346817.10:c.770G>C
|
ENSP00000237865.7:p.Arg257Thr
|
|
|
ENST00000438843.6:c.*356G>C
|
ENSP00000401914.1:n.*356G>C
|
|
|
ENST00000492363.6:c.807G>C
|
ENSP00000512459.1:p.Gln269His
|
|
|
ENST00000696199.1:c.721+4394G>C
|
ENSP00000512481.1:n.721+4394G>C
|
|
|
ENST00000286186.11:c.899G>C
MANE Select
|
ENSP00000286186.6:p.Arg300Thr
|
|
|
ENST00000272879.9:c.899G>C
|
ENSP00000272879.5:p.Arg300Thr
|
|
|
ENST00000286186.10:c.899G>C
|
ENSP00000286186.6:p.Arg300Thr
|
|
|
ENST00000313728.11:c.722-910G>C
|
ENSP00000314599.7:n.722-910G>C
|
|
|
ENST00000346817.9:c.770G>C
|
ENSP00000237865.7:p.Arg257Thr
|
|
|
ENST00000360132.7:c.807G>C
|
ENSP00000353250.3:p.Gln269His
|
|
|
ENST00000438843.5:c.*356G>C
|
ENSP00000401914.1:n.*356G>C
|
|
|
ENST00000448480.1:c.770G>C
|
ENSP00000396835.1:p.Arg257Thr
|
|
|
ENST00000492363.5:n.807G>C
|
|
|
|
NM_001206524.1:c.722-910G>C
|
NP_001193453.1:n.722-910G>C
|
|
|
NM_001206542.1:c.770G>C
|
NP_001193471.1:p.Arg257Thr
|
|
|
NM_001230.4:c.770G>C
|
NP_001221.2:p.Arg257Thr
|
|
|
NM_032974.4:c.899G>C
|
NP_116756.2:p.Arg300Thr
|
|
|
NM_032976.3:c.807G>C
|
NP_116758.1:p.Gln269His
|
|
|
NM_032977.3:c.899G>C , LRG_33t1:c.899G>C
|
NP_116759.2:p.Arg300Thr
|
|
|
XM_005246907.2:c.896G>C
|
XP_005246964.1:p.Arg299Thr
|
|
|
XM_006712796.2:c.149G>C
|
XP_006712859.1:p.Arg50Thr
|
|
|
XM_011511990.1:c.804G>C
|
XP_011510292.1:p.Gln268His
|
|
|
XR_923043.1:n.1103G>C
|
|
|
|
XR_923044.1:n.1011G>C
|
|
|
|
XM_006712796.3:c.149G>C
|
XP_006712859.1:p.Arg50Thr
|
|
|
XM_011511990.2:c.804G>C
|
XP_011510292.1:p.Gln268His
|
|
|
XR_923043.2:n.1103G>C
|
|
|
|
XR_923044.2:n.1011G>C
|
|
|
|
NM_001206524.2:c.722-910G>C
|
NP_001193453.1:n.722-910G>C
|
|
|
NM_001206542.2:c.770G>C
|
NP_001193471.1:p.Arg257Thr
|
|
|
NM_001230.5:c.770G>C
|
NP_001221.2:p.Arg257Thr
|
|
|
NM_032974.5:c.899G>C
|
NP_116756.2:p.Arg300Thr
|
|
|
NM_032977.4:c.899G>C
MANE Select
|
NP_116759.2:p.Arg300Thr
|
|
|
NM_032976.4:c.807G>C
|
NP_116758.1:p.Gln269His
|
|
