|
ENST00000420682.7:c.1170G>C
|
ENSP00000413056.2:p.Met390Ile
|
|
|
ENST00000703922.1:c.1170G>C
|
ENSP00000515557.1:p.Met390Ile
|
|
|
ENST00000703923.1:c.1083G>C
|
ENSP00000515558.1:p.Met361Ile
|
|
|
ENST00000703924.1:c.1170G>C
|
ENSP00000515559.1:p.Met390Ile
|
|
|
ENST00000703978.1:c.1257G>C
|
ENSP00000515600.1:p.Met419Ile
|
|
|
ENST00000703980.1:n.483G>C
|
|
|
|
ENST00000703981.1:n.441G>C
|
|
|
|
ENST00000703982.1:n.675G>C
|
|
|
|
ENST00000262410.10:c.2433G>C
MANE Select
|
ENSP00000262410.6:p.Met811Ile
|
|
|
ENST00000344290.10:c.2142G>C
|
ENSP00000340820.6:p.Met714Ile
|
|
|
ENST00000351559.10:c.1257G>C
|
ENSP00000303214.7:p.Met419Ile
|
|
|
ENST00000535772.6:c.1077G>C
|
ENSP00000443028.2:p.Met359Ile
|
|
|
ENST00000680542.1:c.1170G>C
|
ENSP00000505258.1:p.Met390Ile
|
|
|
ENST00000680674.1:c.1206G>C
|
ENSP00000505478.1:p.Met402Ile
|
|
|
ENST00000262410.9:c.2208G>C
|
ENSP00000262410.5:p.Met736Ile
|
|
|
ENST00000334239.12:c.990G>C
|
ENSP00000334886.8:p.Met330Ile
|
|
|
ENST00000340799.9:c.1170G>C
|
ENSP00000340438.5:p.Met390Ile
|
|
|
ENST00000344290.9:c.2262G>C
|
ENSP00000340820.5:p.Met754Ile
|
|
|
ENST00000351559.9:c.1257G>C
|
ENSP00000303214.7:p.Met419Ile
|
|
|
ENST00000415613.6:c.2262G>C
|
ENSP00000410838.2:p.Met754Ile
|
|
|
ENST00000420682.6:c.1170G>C
|
ENSP00000413056.2:p.Met390Ile
|
|
|
ENST00000431008.7:c.1164G>C
|
ENSP00000389250.3:p.Met388Ile
|
|
|
ENST00000446361.7:c.1083G>C
|
ENSP00000408975.3:p.Met361Ile
|
|
|
ENST00000535772.5:c.1164G>C
|
ENSP00000443028.1:p.Met388Ile
|
|
|
ENST00000571987.5:c.2208G>C
|
ENSP00000458742.1:p.Met736Ile
|
|
|
ENST00000574436.5:c.1257G>C
|
ENSP00000460965.1:p.Met419Ile
|
|
|
ENST00000576518.1:n.6449G>C
|
|
|
|
NM_001123066.3:c.2262G>C
|
NP_001116538.2:p.Met754Ile
|
|
|
NM_001123067.3:c.1170G>C
|
NP_001116539.1:p.Met390Ile
|
|
|
NM_001203251.1:c.1077G>C
|
NP_001190180.1:p.Met359Ile
|
|
|
NM_001203252.1:c.1164G>C
|
NP_001190181.1:p.Met388Ile
|
|
|
NM_005910.5:c.1257G>C
|
NP_005901.2:p.Met419Ile
|
|
|
NM_016834.4:c.1083G>C
|
NP_058518.1:p.Met361Ile
|
|
|
NM_016835.4:c.2208G>C
|
NP_058519.3:p.Met736Ile
|
|
|
NM_016841.4:c.990G>C
|
NP_058525.1:p.Met330Ile
|
|
|
XM_005257362.3:c.2520G>C
|
XP_005257419.1:p.Met840Ile
|
|
|
XM_005257364.3:c.2433G>C
|
XP_005257421.1:p.Met811Ile
|
|
|
XM_005257365.3:c.2427G>C
|
XP_005257422.1:p.Met809Ile
|
|
|
XM_005257366.2:c.2346G>C
|
XP_005257423.1:p.Met782Ile
|
|
|
XM_005257367.3:c.2322G>C
|
XP_005257424.1:p.Met774Ile
|
|
|
XM_005257368.3:c.2229G>C
|
XP_005257425.1:p.Met743Ile
|
|
|
XM_005257369.3:c.1455G>C
|
XP_005257426.1:p.Met485Ile
|
|
|
XM_005257370.3:c.1368G>C
|
XP_005257427.1:p.Met456Ile
|
|
|
XM_005257371.3:c.1281G>C
|
XP_005257428.1:p.Met427Ile
|
|
|
XM_005257362.4:c.2520G>C
|
XP_005257419.1:p.Met840Ile
|
|
|
XM_005257364.4:c.2433G>C
|
XP_005257421.1:p.Met811Ile
|
|
|
XM_005257365.4:c.2427G>C
|
XP_005257422.1:p.Met809Ile
|
|
|
XM_005257366.3:c.2346G>C
|
XP_005257423.1:p.Met782Ile
|
|
|
XM_005257367.4:c.2322G>C
|
XP_005257424.1:p.Met774Ile
|
|
|
XM_005257368.4:c.2229G>C
|
XP_005257425.1:p.Met743Ile
|
|
|
XM_005257369.4:c.1455G>C
|
XP_005257426.1:p.Met485Ile
|
|
|
XM_005257370.4:c.1368G>C
|
XP_005257427.1:p.Met456Ile
|
|
|
XM_005257371.4:c.1281G>C
|
XP_005257428.1:p.Met427Ile
|
|
|
NM_001203251.2:c.1077G>C
|
NP_001190180.1:p.Met359Ile
|
|
|
NM_001377265.1:c.2433G>C
MANE Select
|
NP_001364194.1:p.Met811Ile
|
|
|
NM_001377266.1:c.2142G>C
|
NP_001364195.1:p.Met714Ile
|
|
|
NM_001377267.1:c.772-1015G>C
|
NP_001364196.1:n.772-1015G>C
|
|
|
NM_001377268.1:c.990G>C
|
NP_001364197.1:p.Met330Ile
|
|
|
NM_016834.5:c.1083G>C
|
NP_058518.1:p.Met361Ile
|
|
|
NM_016841.5:c.990G>C
|
NP_058525.1:p.Met330Ile
|
|
|
NR_165166.1:n.1088G>C
|
|
|
|
NM_001123066.4:c.2262G>C
|
NP_001116538.2:p.Met754Ile
|
|
|
NM_001123067.4:c.1170G>C
|
NP_001116539.1:p.Met390Ile
|
|
|
NM_001203252.2:c.1164G>C
|
NP_001190181.1:p.Met388Ile
|
|
|
NM_005910.6:c.1257G>C
|
NP_005901.2:p.Met419Ile
|
|
|
NM_016835.5:c.2208G>C
|
NP_058519.3:p.Met736Ile
|
|
