|
ENST00000420682.7:c.830T>C
|
ENSP00000413056.2:p.Val277Ala
|
|
|
ENST00000703922.1:c.830T>C
|
ENSP00000515557.1:p.Val277Ala
|
|
|
ENST00000703923.1:c.743T>C
|
ENSP00000515558.1:p.Val248Ala
|
|
|
ENST00000703924.1:c.830T>C
|
ENSP00000515559.1:p.Val277Ala
|
|
|
ENST00000703978.1:c.917T>C
|
ENSP00000515600.1:p.Val306Ala
|
|
|
ENST00000703979.1:n.688T>C
|
|
|
|
ENST00000703980.1:n.143T>C
|
|
|
|
ENST00000703981.1:n.86T>C
|
|
|
|
ENST00000262410.10:c.2093T>C
MANE Select
|
ENSP00000262410.6:p.Val698Ala
|
|
|
ENST00000344290.10:c.1802T>C
|
ENSP00000340820.6:p.Val601Ala
|
|
|
ENST00000351559.10:c.917T>C
|
ENSP00000303214.7:p.Val306Ala
|
|
|
ENST00000535772.6:c.737T>C
|
ENSP00000443028.2:p.Val246Ala
|
|
|
ENST00000680542.1:c.830T>C
|
ENSP00000505258.1:p.Val277Ala
|
|
|
ENST00000680674.1:c.743T>C
|
ENSP00000505478.1:p.Val248Ala
|
|
|
ENST00000262410.9:c.1868T>C
|
ENSP00000262410.5:p.Val623Ala
|
|
|
ENST00000334239.12:c.650T>C
|
ENSP00000334886.8:p.Val217Ala
|
|
|
ENST00000340799.9:c.830T>C
|
ENSP00000340438.5:p.Val277Ala
|
|
|
ENST00000344290.9:c.1922T>C
|
ENSP00000340820.5:p.Val641Ala
|
|
|
ENST00000351559.9:c.917T>C
|
ENSP00000303214.7:p.Val306Ala
|
|
|
ENST00000415613.6:c.1922T>C
|
ENSP00000410838.2:p.Val641Ala
|
|
|
ENST00000420682.6:c.830T>C
|
ENSP00000413056.2:p.Val277Ala
|
|
|
ENST00000431008.7:c.824T>C
|
ENSP00000389250.3:p.Val275Ala
|
|
|
ENST00000446361.7:c.743T>C
|
ENSP00000408975.3:p.Val248Ala
|
|
|
ENST00000535772.5:c.824T>C
|
ENSP00000443028.1:p.Val275Ala
|
|
|
ENST00000570299.5:n.777-4374T>C
|
|
|
|
ENST00000571987.5:c.1868T>C
|
ENSP00000458742.1:p.Val623Ala
|
|
|
ENST00000574436.5:c.917T>C
|
ENSP00000460965.1:p.Val306Ala
|
|
|
ENST00000576518.1:n.6109T>C
|
|
|
|
NM_001123066.3:c.1922T>C
|
NP_001116538.2:p.Val641Ala
|
|
|
NM_001123067.3:c.830T>C
|
NP_001116539.1:p.Val277Ala
|
|
|
NM_001203251.1:c.737T>C
|
NP_001190180.1:p.Val246Ala
|
|
|
NM_001203252.1:c.824T>C
|
NP_001190181.1:p.Val275Ala
|
|
|
NM_005910.5:c.917T>C
|
NP_005901.2:p.Val306Ala
|
|
|
NM_016834.4:c.743T>C
|
NP_058518.1:p.Val248Ala
|
|
|
NM_016835.4:c.1868T>C
|
NP_058519.3:p.Val623Ala
|
|
|
NM_016841.4:c.650T>C
|
NP_058525.1:p.Val217Ala
|
|
|
XM_005257362.3:c.2180T>C
|
XP_005257419.1:p.Val727Ala
|
|
|
XM_005257364.3:c.2093T>C
|
XP_005257421.1:p.Val698Ala
|
|
|
XM_005257365.3:c.2087T>C
|
XP_005257422.1:p.Val696Ala
|
|
|
XM_005257366.2:c.2006T>C
|
XP_005257423.1:p.Val669Ala
|
|
|
XM_005257367.3:c.1982T>C
|
XP_005257424.1:p.Val661Ala
|
|
|
XM_005257368.3:c.1889T>C
|
XP_005257425.1:p.Val630Ala
|
|
|
XM_005257369.3:c.1115T>C
|
XP_005257426.1:p.Val372Ala
|
|
|
XM_005257370.3:c.1028T>C
|
XP_005257427.1:p.Val343Ala
|
|
|
XM_005257371.3:c.941T>C
|
XP_005257428.1:p.Val314Ala
|
|
|
XM_005257362.4:c.2180T>C
|
XP_005257419.1:p.Val727Ala
|
|
|
XM_005257364.4:c.2093T>C
|
XP_005257421.1:p.Val698Ala
|
|
|
XM_005257365.4:c.2087T>C
|
XP_005257422.1:p.Val696Ala
|
|
|
XM_005257366.3:c.2006T>C
|
XP_005257423.1:p.Val669Ala
|
|
|
XM_005257367.4:c.1982T>C
|
XP_005257424.1:p.Val661Ala
|
|
|
XM_005257368.4:c.1889T>C
|
XP_005257425.1:p.Val630Ala
|
|
|
XM_005257369.4:c.1115T>C
|
XP_005257426.1:p.Val372Ala
|
|
|
XM_005257370.4:c.1028T>C
|
XP_005257427.1:p.Val343Ala
|
|
|
XM_005257371.4:c.941T>C
|
XP_005257428.1:p.Val314Ala
|
|
|
NM_001203251.2:c.737T>C
|
NP_001190180.1:p.Val246Ala
|
|
|
NM_001377265.1:c.2093T>C
MANE Select
|
NP_001364194.1:p.Val698Ala
|
|
|
NM_001377266.1:c.1802T>C
|
NP_001364195.1:p.Val601Ala
|
|
|
NM_001377267.1:c.737T>C
|
NP_001364196.1:p.Val246Ala
|
|
|
NM_001377268.1:c.650T>C
|
NP_001364197.1:p.Val217Ala
|
|
|
NM_016834.5:c.743T>C
|
NP_058518.1:p.Val248Ala
|
|
|
NM_016841.5:c.650T>C
|
NP_058525.1:p.Val217Ala
|
|
|
NR_165166.1:n.748T>C
|
|
|
|
NM_001123066.4:c.1922T>C
|
NP_001116538.2:p.Val641Ala
|
|
|
NM_001123067.4:c.830T>C
|
NP_001116539.1:p.Val277Ala
|
|
|
NM_001203252.2:c.824T>C
|
NP_001190181.1:p.Val275Ala
|
|
|
NM_005910.6:c.917T>C
|
NP_005901.2:p.Val306Ala
|
|
|
NM_016835.5:c.1868T>C
|
NP_058519.3:p.Val623Ala
|
|
