|
ENST00000251038.10:c.2181G>T
MANE Select
|
ENSP00000251038.5:p.Leu727Phe
|
|
|
ENST00000649731.1:c.*1389G>T
|
ENSP00000497757.1:n.*1389G>T
|
|
|
ENST00000251038.9:c.2181G>T
|
ENSP00000251038.5:p.Leu727Phe
|
|
|
ENST00000302216.12:c.1710G>T
|
ENSP00000307025.8:p.Leu570Phe
|
|
|
ENST00000318308.10:c.891G>T
|
ENSP00000327176.6:p.Leu297Phe
|
|
|
ENST00000336693.8:c.1686G>T
|
ENSP00000338002.4:p.Leu562Phe
|
|
|
ENST00000393514.9:c.2106G>T
|
ENSP00000377150.5:p.Leu702Phe
|
|
|
ENST00000406216.7:c.819G>T
|
ENSP00000384682.3:p.Leu273Phe
|
|
|
ENST00000554020.5:n.1024G>T
|
|
|
|
ENST00000555755.5:c.2163G>T
|
ENSP00000452475.1:p.Leu721Phe
|
|
|
ENST00000555792.1:c.426G>T
|
ENSP00000450823.1:p.Leu142Phe
|
|
|
ENST00000555851.6:n.340G>T
|
|
|
|
ENST00000555900.5:c.1287G>T
|
ENSP00000451530.1:p.Leu429Phe
|
|
|
ENST00000556000.5:c.1925G>T
|
|
|
|
ENST00000556945.5:c.1788G>T
|
ENSP00000450474.1:p.Leu596Phe
|
|
|
ENST00000557491.1:n.1466G>T
|
|
|
|
ENST00000557607.5:c.1233G>T
|
ENSP00000452370.1:p.Leu411Phe
|
|
|
NM_001160103.1:c.2178G>T
|
NP_001153575.1:p.Leu726Phe
|
|
|
NM_001160104.1:c.2163G>T
|
NP_001153576.1:p.Leu721Phe
|
|
|
NM_024824.4:c.2181G>T
|
NP_079100.2:p.Leu727Phe
|
|
|
NM_207660.3:c.1710G>T
|
NP_997543.1:p.Leu570Phe
|
|
|
NM_207661.2:c.1686G>T
|
NP_997544.1:p.Leu562Phe
|
|
|
NM_207662.3:c.891G>T
|
NP_997545.2:p.Leu297Phe
|
|
|
XM_005268067.3:c.2166G>T
|
XP_005268124.1:p.Leu722Phe
|
|
|
XM_005268068.3:c.2106G>T
|
XP_005268125.1:p.Leu702Phe
|
|
|
XM_005268069.3:c.1788G>T
|
XP_005268126.1:p.Leu596Phe
|
|
|
XM_005268070.3:c.1785G>T
|
XP_005268127.1:p.Leu595Phe
|
|
|
XM_005268071.3:c.1713G>T
|
XP_005268128.1:p.Leu571Phe
|
|
|
XM_005268073.3:c.1287G>T
|
XP_005268130.1:p.Leu429Phe
|
|
|
XM_006720257.2:c.1212G>T
|
XP_006720320.1:p.Leu404Phe
|
|
|
XM_011537160.1:c.2079G>T
|
XP_011535462.1:p.Leu693Phe
|
|
|
XM_011537161.1:c.2025G>T
|
XP_011535463.1:p.Leu675Phe
|
|
|
NM_001326295.1:c.1788G>T
|
NP_001313224.1:p.Leu596Phe
|
|
|
NM_001326296.1:c.2103G>T
|
NP_001313225.1:p.Leu701Phe
|
|
|
NM_001326297.1:c.2079G>T
|
NP_001313226.1:p.Leu693Phe
|
|
|
NM_001326298.1:c.1713G>T
|
NP_001313227.1:p.Leu571Phe
|
|
|
NM_001326299.1:c.2088G>T
|
NP_001313228.1:p.Leu696Phe
|
|
|
NM_001326300.1:c.1716G>T
|
NP_001313229.1:p.Leu572Phe
|
|
|
NM_001326301.1:c.2004G>T
|
NP_001313230.1:p.Leu668Phe
|
|
|
NM_001326302.1:c.1713G>T
|
NP_001313231.1:p.Leu571Phe
|
|
|
NM_001326303.1:c.1608G>T
|
NP_001313232.1:p.Leu536Phe
|
|
|
NM_001326304.1:c.1320G>T
|
NP_001313233.1:p.Leu440Phe
|
|
|
NM_001326305.1:c.1641G>T
|
NP_001313234.1:p.Leu547Phe
|
|
|
NM_001326306.1:c.1554G>T
|
NP_001313235.1:p.Leu518Phe
|
|
|
NM_001326307.1:c.2106G>T
|
NP_001313236.1:p.Leu702Phe
|
|
|
NM_001326308.1:c.1323G>T
|
NP_001313237.1:p.Leu441Phe
|
|
|
NM_001326309.1:c.1248G>T
|
NP_001313238.1:p.Leu416Phe
|
|
|
NM_001326310.1:c.2166G>T
|
NP_001313239.1:p.Leu722Phe
|
|
|
NM_001326311.1:c.1245G>T
|
NP_001313240.1:p.Leu415Phe
|
|
|
NM_001326312.1:c.2091G>T
|
NP_001313241.1:p.Leu697Phe
|
|
|
NM_001326313.1:c.1557G>T
|
NP_001313242.1:p.Leu519Phe
|
|
|
NM_001326314.1:c.1638G>T
|
NP_001313243.1:p.Leu546Phe
|
|
|
NM_001326315.1:c.2076G>T
|
NP_001313244.1:p.Leu692Phe
|
|
|
NM_001326316.1:c.2076G>T
|
NP_001313245.1:p.Leu692Phe
|
|
|
NR_136936.1:n.2246G>T
|
|
|
|
XM_005268070.5:c.1785G>T
|
XP_005268127.1:p.Leu595Phe
|
|
|
XM_005268073.4:c.1287G>T
|
XP_005268130.1:p.Leu429Phe
|
|
|
XM_006720257.3:c.1212G>T
|
XP_006720320.1:p.Leu404Phe
|
|
|
XM_011537161.3:c.2025G>T
|
XP_011535463.1:p.Leu675Phe
|
|
|
XM_024449713.1:c.1209G>T
|
XP_024305481.1:p.Leu403Phe
|
|
|
NM_024824.5:c.2181G>T
MANE Select
|
NP_079100.2:p.Leu727Phe
|
|
|
NM_001160103.2:c.2178G>T
|
NP_001153575.1:p.Leu726Phe
|
|
|
NM_001160104.2:c.2163G>T
|
NP_001153576.1:p.Leu721Phe
|
|
|
NM_001326295.2:c.1788G>T
|
NP_001313224.1:p.Leu596Phe
|
|
|
NM_001326296.2:c.2103G>T
|
NP_001313225.1:p.Leu701Phe
|
|
|
NM_001326297.2:c.2079G>T
|
NP_001313226.1:p.Leu693Phe
|
|
|
NM_001326298.2:c.1713G>T
|
NP_001313227.1:p.Leu571Phe
|
|
|
NM_001326299.2:c.2088G>T
|
NP_001313228.1:p.Leu696Phe
|
|
|
NM_001326300.2:c.1716G>T
|
NP_001313229.1:p.Leu572Phe
|
|
|
NM_001326301.2:c.2004G>T
|
NP_001313230.1:p.Leu668Phe
|
|
|
NM_001326302.2:c.1713G>T
|
NP_001313231.1:p.Leu571Phe
|
|
|
NM_001326303.2:c.1608G>T
|
NP_001313232.1:p.Leu536Phe
|
|
|
NM_001326304.2:c.1320G>T
|
NP_001313233.1:p.Leu440Phe
|
|
|
NM_001326305.2:c.1641G>T
|
NP_001313234.1:p.Leu547Phe
|
|
|
NM_001326306.2:c.1554G>T
|
NP_001313235.1:p.Leu518Phe
|
|
|
NM_001326307.2:c.2106G>T
|
NP_001313236.1:p.Leu702Phe
|
|
|
NM_001326308.2:c.1323G>T
|
NP_001313237.1:p.Leu441Phe
|
|
|
NM_001326309.2:c.1248G>T
|
NP_001313238.1:p.Leu416Phe
|
|
|
NM_001326310.2:c.2166G>T
|
NP_001313239.1:p.Leu722Phe
|
|
|
NM_001326311.2:c.1245G>T
|
NP_001313240.1:p.Leu415Phe
|
|
|
NM_001326312.2:c.2091G>T
|
NP_001313241.1:p.Leu697Phe
|
|
|
NM_001326313.2:c.1557G>T
|
NP_001313242.1:p.Leu519Phe
|
|
|
NM_001326314.2:c.1638G>T
|
NP_001313243.1:p.Leu546Phe
|
|
|
NM_001326315.2:c.2076G>T
|
NP_001313244.1:p.Leu692Phe
|
|
|
NM_207660.4:c.1710G>T
|
NP_997543.1:p.Leu570Phe
|
|
|
NM_207662.4:c.891G>T
|
NP_997545.2:p.Leu297Phe
|
|
|
NR_136936.2:n.2118G>T
|
|
|
|
NM_001326316.2:c.2076G>T
|
NP_001313245.1:p.Leu692Phe
|
|
|
NM_207661.3:c.1686G>T
|
NP_997544.1:p.Leu562Phe
|
|
