ENST00000368356.9:c.624G>A
(FDPS)
MANE Select
|
ENSP00000357340.4:p.Leu208=
|
|
ENST00000356657.10:c.624G>A
(FDPS)
|
ENSP00000349078.6:p.Leu208=
|
|
ENST00000368356.8:c.624G>A
(FDPS)
|
ENSP00000357340.4:p.Leu208=
|
|
ENST00000447866.5:c.426G>A
(FDPS)
|
ENSP00000391755.1:p.Leu142=
|
|
ENST00000461507.5:n.590G>A
(FDPS)
|
|
|
ENST00000467076.5:c.426G>A
(FDPS)
|
ENSP00000480142.1:p.Leu142=
|
|
ENST00000468479.5:n.638G>A
(FDPS)
|
|
|
ENST00000470171.5:n.536G>A
(FDPS)
|
|
|
ENST00000471117.5:n.388G>A
(FDPS)
|
|
|
ENST00000474345.5:c.*301G>A
(FDPS)
|
ENSP00000478032.1:n.*301G>A
|
|
ENST00000477057.5:n.519G>A
(FDPS)
|
|
|
ENST00000489003.5:n.520G>A
(FDPS)
|
|
|
ENST00000491013.5:c.624G>A
(FDPS)
|
ENSP00000479557.1:p.Leu208=
|
|
ENST00000492244.5:n.44G>A
(FDPS)
|
|
|
ENST00000492887.5:n.57G>A
(FDPS)
|
|
|
ENST00000495308.5:n.521G>A
(FDPS)
|
|
|
ENST00000611010.4:c.111G>A
(FDPS)
|
ENSP00000483188.1:p.Leu37=
|
|
ENST00000612683.1:c.426G>A
(FDPS)
|
ENSP00000478235.1:p.Leu142=
|
|
NM_001135821.1:c.624G>A
(FDPS)
|
NP_001129293.1:p.Leu208=
|
|
NM_001135822.1:c.426G>A
(FDPS)
|
NP_001129294.1:p.Leu142=
|
|
NM_001242824.1:c.426G>A
(FDPS)
|
NP_001229753.1:p.Leu142=
|
|
NM_001242825.1:c.111G>A
(FDPS)
|
NP_001229754.1:p.Leu37=
|
|
NM_002004.3:c.624G>A
(FDPS)
|
NP_001995.1:p.Leu208=
|
|
XM_005244962.1:c.426G>A
(FDPS)
|
XP_005245019.1:p.Leu142=
|
|
XM_005244963.1:c.426G>A
(FDPS)
|
XP_005245020.1:p.Leu142=
|
|
NR_145424.1:n.627+34C>T
(RUSC1-AS1)
|
|
|
NR_145425.1:n.352+34C>T
(RUSC1-AS1)
|
|
|
XM_024454066.1:c.624G>A
(FDPS)
|
XP_024309834.1:p.Leu208=
|
|
XM_024454070.1:c.624G>A
(FDPS)
|
XP_024309838.1:p.Leu208=
|
|
XM_024454071.1:c.426G>A
(FDPS)
|
XP_024309839.1:p.Leu142=
|
|
XM_024454072.1:c.426G>A
(FDPS)
|
XP_024309840.1:p.Leu142=
|
|
XM_024454073.1:c.426G>A
(FDPS)
|
XP_024309841.1:p.Leu142=
|
|
XM_024454074.1:c.426G>A
(FDPS)
|
XP_024309842.1:p.Leu142=
|
|
XM_024454076.1:c.111G>A
(FDPS)
|
XP_024309844.1:p.Leu37=
|
|
NM_001135821.2:c.624G>A
(FDPS)
|
NP_001129293.1:p.Leu208=
|
|
NM_001135822.2:c.426G>A
(FDPS)
|
NP_001129294.1:p.Leu142=
|
|
NM_001242824.2:c.426G>A
(FDPS)
|
NP_001229753.1:p.Leu142=
|
|
NM_002004.4:c.624G>A
(FDPS)
MANE Select
|
NP_001995.1:p.Leu208=
|
|
NM_001242825.2:c.111G>A
(FDPS)
|
NP_001229754.1:p.Leu37=
|
|
NM_001378424.1:c.426G>A
(FDPS)
|
NP_001365353.1:p.Leu142=
|
|
NM_001378425.1:c.426G>A
(FDPS)
|
NP_001365354.1:p.Leu142=
|
|