ENST00000427716.7:c.664G>C
|
ENSP00000394487.2:p.Val222Leu
|
|
ENST00000531134.7:c.919G>C
|
ENSP00000431323.1:p.Val307Leu
|
|
ENST00000583694.2:c.664G>C
|
ENSP00000462623.2:p.Val222Leu
|
|
ENST00000682739.1:c.385G>C
|
ENSP00000507616.1:p.Val129Leu
|
|
ENST00000683182.1:c.-386G>C
|
ENSP00000507831.1:n.-386G>C
|
|
ENST00000683515.1:n.171G>C
|
|
|
ENST00000525053.6:c.664G>C
|
ENSP00000433666.2:p.Val222Leu
|
|
ENST00000531134.6:c.919G>C
|
ENSP00000431323.1:p.Val307Leu
|
|
ENST00000534526.7:c.1075G>C
MANE Select
|
ENSP00000449273.1:p.Val359Leu
|
|
ENST00000395740.5:c.664G>C
|
ENSP00000379089.1:p.Val222Leu
|
|
ENST00000427716.6:c.664G>C
|
ENSP00000394487.2:p.Val222Leu
|
|
ENST00000493087.5:c.664G>C
|
ENSP00000437109.1:p.Val222Leu
|
|
ENST00000494977.1:c.153G>C
|
|
|
ENST00000525053.5:c.1000G>C
|
ENSP00000433666.1:p.Val334Leu
|
|
ENST00000531134.5:c.919G>C
|
ENSP00000431323.1:p.Val307Leu
|
|
ENST00000534526.6:c.1075G>C
|
ENSP00000449273.1:p.Val359Leu
|
|
ENST00000546442.5:c.385G>C
|
ENSP00000446695.1:p.Val129Leu
|
|
ENST00000551984.5:c.*33G>C
|
ENSP00000449614.1:n.*33G>C
|
|
NM_001304480.1:c.1000G>C
|
NP_001291409.1:p.Val334Leu
|
|
NM_001304481.1:c.919G>C
|
NP_001291410.1:p.Val307Leu
|
|
NM_001304483.1:c.-181G>C
|
NP_001291412.1:n.-181G>C
|
|
NM_001304484.1:c.-488G>C
|
NP_001291413.1:n.-488G>C
|
|
NM_139241.3:c.664G>C
|
NP_640334.2:p.Val222Leu
|
|
XM_005253304.3:c.1156G>C
|
XP_005253361.1:p.Val386Leu
|
|
XM_005253307.2:c.385G>C
|
XP_005253364.1:p.Val129Leu
|
|
XM_005253308.3:c.385G>C
|
XP_005253365.1:p.Val129Leu
|
|
XM_005253309.1:c.385G>C
|
XP_005253366.1:p.Val129Leu
|
|
XM_011520554.1:c.958G>C
|
XP_011518856.1:p.Val320Leu
|
|
XM_011520555.1:c.664G>C
|
XP_011518857.1:p.Val222Leu
|
|
XM_011520556.1:c.664G>C
|
XP_011518858.1:p.Val222Leu
|
|
XM_011520557.1:c.112G>C
|
XP_011518859.1:p.Val38Leu
|
|
XM_011520558.1:c.67G>C
|
XP_011518860.1:p.Val23Leu
|
|
NM_001330373.1:c.385G>C
|
NP_001317302.1:p.Val129Leu
|
|
NM_001330374.1:c.385G>C
|
NP_001317303.1:p.Val129Leu
|
|
XM_005253304.4:c.1156G>C
|
XP_005253361.1:p.Val386Leu
|
|
XM_005253308.5:c.385G>C
|
XP_005253365.1:p.Val129Leu
|
|
XM_005253310.4:c.-181G>C
|
XP_005253367.1:n.-181G>C
|
|
XM_011520558.2:c.67G>C
|
XP_011518860.1:p.Val23Leu
|
|
XM_017018803.1:c.1156G>C
|
XP_016874292.1:p.Val386Leu
|
|
XM_017018805.1:c.112G>C
|
XP_016874294.1:p.Val38Leu
|
|
XM_024448837.1:c.385G>C
|
XP_024304605.1:p.Val129Leu
|
|
XM_024448838.1:c.385G>C
|
XP_024304606.1:p.Val129Leu
|
|
XM_024448839.1:c.385G>C
|
XP_024304607.1:p.Val129Leu
|
|
XM_024448840.1:c.-139G>C
|
XP_024304608.1:n.-139G>C
|
|
XR_001748576.1:n.1346G>C
|
|
|
NM_001370297.1:c.112G>C
|
NP_001357226.1:p.Val38Leu
|
|
NM_001370298.1:c.1156G>C
|
NP_001357227.1:p.Val386Leu
|
|
NM_001304483.2:c.-181G>C
|
NP_001291412.1:n.-181G>C
|
|
NM_001304484.2:c.-488G>C
|
NP_001291413.1:n.-488G>C
|
|
NM_001330373.2:c.385G>C
|
NP_001317302.1:p.Val129Leu
|
|
NM_001330374.2:c.385G>C
|
NP_001317303.1:p.Val129Leu
|
|
NM_001370298.3:c.1075G>C
MANE Select
|
NP_001357227.2:p.Val359Leu
|
|
NM_001384126.1:c.1075G>C
|
NP_001371055.1:p.Val359Leu
|
|
NM_001384127.1:c.664G>C
|
NP_001371056.1:p.Val222Leu
|
|
NM_001384128.1:c.664G>C
|
NP_001371057.1:p.Val222Leu
|
|
NM_001384130.1:c.385G>C
|
NP_001371059.1:p.Val129Leu
|
|
NM_001385118.1:c.664G>C
|
NP_001372047.1:p.Val222Leu
|
|