|
ENST00000296468.8:c.1003G>C
|
ENSP00000296468.3:p.Gly335Arg
|
|
|
ENST00000509826.2:c.*236G>C
|
ENSP00000421176.2:n.*236G>C
|
|
|
ENST00000513559.6:c.721G>C
|
ENSP00000425000.2:p.Gly241Arg
|
|
|
ENST00000515130.6:c.864-188G>C
|
ENSP00000493056.1:n.864-188G>C
|
|
|
ENST00000641025.1:c.999-188G>C
|
ENSP00000493346.1:n.999-188G>C
|
|
|
ENST00000641092.1:c.798-188G>C
|
ENSP00000493392.1:n.798-188G>C
|
|
|
ENST00000641133.1:c.*317G>C
|
ENSP00000493192.1:n.*317G>C
|
|
|
ENST00000641146.1:n.869G>C
|
|
|
|
ENST00000641147.1:c.553G>C
|
ENSP00000493133.1:p.Gly185Arg
|
|
|
ENST00000641178.1:c.868G>C
|
ENSP00000492989.1:p.Gly290Arg
|
|
|
ENST00000641186.1:c.889G>C
|
ENSP00000493347.1:p.Gly297Arg
|
|
|
ENST00000641228.1:c.798-188G>C
|
ENSP00000493194.1:n.798-188G>C
|
|
|
ENST00000641332.1:c.*164-188G>C
|
ENSP00000493397.1:n.*164-188G>C
|
|
|
ENST00000641340.1:c.*232-188G>C
|
ENSP00000493191.1:n.*232-188G>C
|
|
|
ENST00000641388.1:n.350-188G>C
|
|
|
|
ENST00000641393.1:c.553G>C
|
ENSP00000493197.1:p.Gly185Arg
|
|
|
ENST00000641397.1:c.684-188G>C
|
ENSP00000493406.1:n.684-188G>C
|
|
|
ENST00000641413.1:c.28-188G>C
|
|
|
|
ENST00000641434.1:c.1003G>C
|
ENSP00000493279.1:p.Gly335Arg
|
|
|
ENST00000641464.1:c.*236G>C
|
ENSP00000493438.1:n.*236G>C
|
|
|
ENST00000641482.1:c.999-188G>C
|
ENSP00000493277.1:n.999-188G>C
|
|
|
ENST00000641508.1:c.*236G>C
|
ENSP00000493209.1:n.*236G>C
|
|
|
ENST00000641509.1:c.688G>C
|
ENSP00000493459.1:p.Gly230Arg
|
|
|
ENST00000641538.1:c.714G>C
|
|
|
|
ENST00000641590.1:c.885-188G>C
|
ENSP00000493132.1:n.885-188G>C
|
|
|
ENST00000641658.1:c.*168G>C
|
ENSP00000492987.1:n.*168G>C
|
|
|
ENST00000641686.2:c.1003G>C
MANE Select
|
ENSP00000493218.2:p.Gly335Arg
|
|
|
ENST00000641690.1:c.802G>C
|
ENSP00000492966.1:p.Gly268Arg
|
|
|
ENST00000641742.1:c.*168G>C
|
ENSP00000493315.1:n.*168G>C
|
|
|
ENST00000641748.1:c.1003G>C
|
ENSP00000493330.1:p.Gly335Arg
|
|
|
ENST00000641753.1:c.830G>C
|
|
|
|
ENST00000641774.1:c.*255G>C
|
ENSP00000492960.1:n.*255G>C
|
|
|
ENST00000641830.1:c.335-188G>C
|
|
|
|
ENST00000641843.1:c.*164-188G>C
|
ENSP00000493174.1:n.*164-188G>C
|
|
|
ENST00000641869.1:c.304-188G>C
|
|
|
|
ENST00000641870.1:c.*164-188G>C
|
ENSP00000493044.1:n.*164-188G>C
|
|
|
ENST00000641882.1:c.*168G>C
|
ENSP00000493301.1:n.*168G>C
|
|
|
ENST00000641928.1:c.*232-188G>C
|
ENSP00000493418.1:n.*232-188G>C
|
|
|
ENST00000641949.1:c.554-1123G>C
|
ENSP00000492891.1:n.554-1123G>C
|
|
|
ENST00000642012.1:n.867G>C
|
|
|
|
ENST00000642034.1:c.885-188G>C
|
ENSP00000493285.1:n.885-188G>C
|
|
|
ENST00000642042.1:c.1003G>C
|
ENSP00000493260.1:p.Gly335Arg
|
|
|
ENST00000642078.1:c.*164-188G>C
|
ENSP00000492885.1:n.*164-188G>C
|
|
|
ENST00000296468.7:c.1003G>C
|
ENSP00000296468.3:p.Gly335Arg
|
|
|
ENST00000504126.1:n.31G>C
|
|
|
|
ENST00000505284.5:n.894-188G>C
|
|
|
|
ENST00000509826.1:c.*236G>C
|
ENSP00000421176.1:n.*236G>C
|
|
|
ENST00000513559.5:c.868G>C
|
ENSP00000425000.1:p.Gly290Arg
|
|
|
ENST00000515130.5:n.1445-188G>C
|
|
|
|
NM_152778.2:c.1003G>C
|
NP_689991.1:p.Gly335Arg
|
|
|
XM_005262893.1:c.1003G>C
|
XP_005262950.1:p.Gly335Arg
|
|
|
XM_005262896.1:c.856G>C
|
XP_005262953.1:p.Gly286Arg
|
|
|
XM_005262897.1:c.802G>C
|
XP_005262954.1:p.Gly268Arg
|
|
|
XM_005262898.2:c.999-188G>C
|
XP_005262955.1:n.999-188G>C
|
|
|
XM_011531830.1:c.889G>C
|
XP_011530132.1:p.Gly297Arg
|
|
|
XM_011531831.1:c.688G>C
|
XP_011530133.1:p.Gly230Arg
|
|
|
XM_011531832.1:c.885-188G>C
|
XP_011530134.1:n.885-188G>C
|
|
|
XR_938717.1:n.1080G>C
|
|
|
|
NM_001363520.1:c.802G>C
|
NP_001350449.1:p.Gly268Arg
|
|
|
NM_001363521.1:c.688G>C
|
NP_001350450.1:p.Gly230Arg
|
|
|
XM_005262898.3:c.999-188G>C
|
XP_005262955.1:n.999-188G>C
|
|
|
XM_017007989.1:c.798-188G>C
|
XP_016863478.1:n.798-188G>C
|
|
|
XM_024453981.1:c.868G>C
|
XP_024309749.1:p.Gly290Arg
|
|
|
XM_024453982.1:c.754G>C
|
XP_024309750.1:p.Gly252Arg
|
|
|
XM_024453983.1:c.553G>C
|
XP_024309751.1:p.Gly185Arg
|
|
|
XR_001741194.1:n.1076-188G>C
|
|
|
|
XR_001741195.1:n.962-188G>C
|
|
|
|
XR_001741196.1:n.875-188G>C
|
|
|
|
XR_001741197.1:n.935G>C
|
|
|
|
XR_001741198.2:n.931-188G>C
|
|
|
|
XR_001741199.1:n.931-188G>C
|
|
|
|
XR_938717.2:n.1080G>C
|
|
|
|
NM_001363520.2:c.802G>C
|
NP_001350449.1:p.Gly268Arg
|
|
|
NM_001363521.2:c.688G>C
|
NP_001350450.1:p.Gly230Arg
|
|
|
NM_001371590.1:c.868G>C
|
NP_001358519.1:p.Gly290Arg
|
|
|
NM_001371591.1:c.1003G>C
|
NP_001358520.1:p.Gly335Arg
|
|
|
NM_001371592.1:c.1009G>C
|
NP_001358521.1:p.Gly337Arg
|
|
|
NM_001371593.1:c.889G>C
|
NP_001358522.1:p.Gly297Arg
|
|
|
NM_001371594.1:c.856G>C
|
NP_001358523.1:p.Gly286Arg
|
|
|
NM_001371595.1:c.721G>C
|
NP_001358524.1:p.Gly241Arg
|
|
|
NM_001371596.2:c.1003G>C
MANE Select
|
NP_001358525.1:p.Gly335Arg
|
|
|
NM_152778.3:c.1003G>C
|
NP_689991.1:p.Gly335Arg
|
|
|
NM_152778.4:c.1003G>C
|
NP_689991.1:p.Gly335Arg
|
|
