|
NM_001371596.2:c.1423G>C
MANE Select
|
NP_001358525.1:p.Val475Leu
|
|
ENST00000641686.2:c.1423G>C
MANE Select
|
ENSP00000493218.2:p.Val475Leu
|
|
NM_001363520.1:c.1222G>C
|
NP_001350449.1:p.Val408Leu
|
|
NM_001363520.2:c.1222G>C
|
NP_001350449.1:p.Val408Leu
|
|
NM_001363521.1:c.1108G>C
|
NP_001350450.1:p.Val370Leu
|
|
NM_001363521.2:c.1108G>C
|
NP_001350450.1:p.Val370Leu
|
|
NM_001371590.1:c.1288G>C
|
NP_001358519.1:p.Val430Leu
|
|
NM_001371591.1:c.1432G>C
|
NP_001358520.1:p.Val478Leu
|
|
NM_001371592.1:c.1429G>C
|
NP_001358521.1:p.Val477Leu
|
|
NM_001371593.1:c.1309G>C
|
NP_001358522.1:p.Val437Leu
|
|
NM_001371594.1:c.1276G>C
|
NP_001358523.1:p.Val426Leu
|
|
NM_001371595.1:c.1141G>C
|
NP_001358524.1:p.Val381Leu
|
|
NM_152778.2:c.1423G>C
|
NP_689991.1:p.Val475Leu
|
|
NM_152778.3:c.1423G>C
|
NP_689991.1:p.Val475Leu
|
|
NM_152778.4:c.1423G>C
|
NP_689991.1:p.Val475Leu
|
|
ENST00000296468.7:c.1423G>C
|
ENSP00000296468.3:p.Val475Leu
|
|
ENST00000296468.8:c.1423G>C
|
ENSP00000296468.3:p.Val475Leu
|
|
ENST00000509826.2:c.*744G>C
|
ENSP00000421176.2:n.*744G>C
|
|
ENST00000513559.5:c.1288G>C
|
ENSP00000425000.1:p.Val430Leu
|
|
ENST00000513559.6:c.1141G>C
|
ENSP00000425000.2:p.Val381Leu
|
|
ENST00000515130.5:n.1765G>C
|
|
|
ENST00000515130.6:c.*308G>C
|
ENSP00000493056.1:n.*308G>C
|
|
ENST00000641025.1:c.*308G>C
|
ENSP00000493346.1:n.*308G>C
|
|
ENST00000641092.1:c.*308G>C
|
ENSP00000493392.1:n.*308G>C
|
|
ENST00000641133.1:c.*1424G>C
|
ENSP00000493192.1:n.*1424G>C
|
|
ENST00000641146.1:n.1976G>C
|
|
|
ENST00000641147.1:c.973G>C
|
ENSP00000493133.1:p.Val325Leu
|
|
ENST00000641178.1:c.1288G>C
|
ENSP00000492989.1:p.Val430Leu
|
|
ENST00000641186.1:c.1309G>C
|
ENSP00000493347.1:p.Val437Leu
|
|
ENST00000641228.1:c.*995G>C
|
ENSP00000493194.1:n.*995G>C
|
|
ENST00000641332.1:c.*565G>C
|
ENSP00000493397.1:n.*565G>C
|
|
ENST00000641340.1:c.*1239G>C
|
ENSP00000493191.1:n.*1239G>C
|
|
ENST00000641388.1:n.670G>C
|
|
|
ENST00000641393.1:c.973G>C
|
ENSP00000493197.1:p.Val325Leu
|
|
ENST00000641397.1:c.*308G>C
|
ENSP00000493406.1:n.*308G>C
|
|
ENST00000641413.1:c.348G>C
|
|
|
ENST00000641434.1:c.1423G>C
|
ENSP00000493279.1:p.Val475Leu
|
|
ENST00000641464.1:c.*656G>C
|
ENSP00000493438.1:n.*656G>C
|
|
ENST00000641482.1:c.*995G>C
|
ENSP00000493277.1:n.*995G>C
|
|
ENST00000641508.1:c.*656G>C
|
ENSP00000493209.1:n.*656G>C
|
|
ENST00000641509.1:c.1108G>C
|
ENSP00000493459.1:p.Val370Leu
|
|
ENST00000641590.1:c.*995G>C
|
ENSP00000493132.1:n.*995G>C
|
|
ENST00000641658.1:c.*588G>C
|
ENSP00000492987.1:n.*588G>C
|
|
ENST00000641690.1:c.1222G>C
|
ENSP00000492966.1:p.Val408Leu
|
|
ENST00000641742.1:c.*588G>C
|
ENSP00000493315.1:n.*588G>C
|
|
ENST00000641748.1:c.1423G>C
|
ENSP00000493330.1:p.Val475Leu
|
|
ENST00000641753.1:c.1250G>C
|
|
|
ENST00000641774.1:c.*675G>C
|
ENSP00000492960.1:n.*675G>C
|
|
ENST00000641843.1:c.*484G>C
|
ENSP00000493174.1:n.*484G>C
|
|
ENST00000641869.1:c.624G>C
|
|
|
ENST00000641870.1:c.*1171G>C
|
ENSP00000493044.1:n.*1171G>C
|
|
ENST00000641882.1:c.*588G>C
|
ENSP00000493301.1:n.*588G>C
|
|
ENST00000641928.1:c.*552G>C
|
ENSP00000493418.1:n.*552G>C
|
|
ENST00000641949.1:c.626G>C
|
ENSP00000492891.1:p.Ser209Thr
|
|
ENST00000642012.1:n.1287G>C
|
|
|
ENST00000642034.1:c.*308G>C
|
ENSP00000493285.1:n.*308G>C
|
|
ENST00000642042.1:c.*742G>C
|
ENSP00000493260.1:n.*742G>C
|
|
ENST00000642078.1:c.*484G>C
|
ENSP00000492885.1:n.*484G>C
|
|
XM_005262893.1:c.1423G>C
|
XP_005262950.1:p.Val475Leu
|
|
XM_005262896.1:c.1276G>C
|
XP_005262953.1:p.Val426Leu
|
|
XM_005262897.1:c.1222G>C
|
XP_005262954.1:p.Val408Leu
|
|
XM_005262898.2:c.*995G>C
|
XP_005262955.1:n.*995G>C
|
|
XM_005262898.3:c.*995G>C
|
XP_005262955.1:n.*995G>C
|
|
XM_011531830.1:c.1309G>C
|
XP_011530132.1:p.Val437Leu
|
|
XM_011531831.1:c.1108G>C
|
XP_011530133.1:p.Val370Leu
|
|
XM_011531832.1:c.*995G>C
|
XP_011530134.1:n.*995G>C
|
|
XM_017007989.1:c.*995G>C
|
XP_016863478.1:n.*995G>C
|
|
XM_024453981.1:c.1288G>C
|
XP_024309749.1:p.Val430Leu
|
|
XM_024453982.1:c.1174G>C
|
XP_024309750.1:p.Val392Leu
|
|
XM_024453983.1:c.973G>C
|
XP_024309751.1:p.Val325Leu
|
|
XR_001741194.1:n.1396G>C
|
|
|
XR_001741195.1:n.1282G>C
|
|
|
XR_001741196.1:n.1195G>C
|
|
|
XR_001741197.1:n.2042G>C
|
|
|
XR_001741198.2:n.1938G>C
|
|
|
XR_001741199.1:n.1251G>C
|
|
|
XR_938717.1:n.1906G>C
|
|
|
XR_938717.2:n.1906G>C
|
|
