|
ENST00000251038.10:c.2204G>T
MANE Select
|
ENSP00000251038.5:p.Ser735Ile
|
|
|
ENST00000649731.1:c.*1412G>T
|
ENSP00000497757.1:n.*1412G>T
|
|
|
ENST00000251038.9:c.2204G>T
|
ENSP00000251038.5:p.Ser735Ile
|
|
|
ENST00000302216.12:c.1733G>T
|
ENSP00000307025.8:p.Ser578Ile
|
|
|
ENST00000318308.10:c.914G>T
|
ENSP00000327176.6:p.Ser305Ile
|
|
|
ENST00000336693.8:c.1709G>T
|
ENSP00000338002.4:p.Ser570Ile
|
|
|
ENST00000393514.9:c.2129G>T
|
ENSP00000377150.5:p.Ser710Ile
|
|
|
ENST00000406216.7:c.842G>T
|
ENSP00000384682.3:p.Ser281Ile
|
|
|
ENST00000554020.5:n.1047G>T
|
|
|
|
ENST00000555755.5:c.2186G>T
|
ENSP00000452475.1:p.Ser729Ile
|
|
|
ENST00000555792.1:c.449G>T
|
ENSP00000450823.1:p.Ser150Ile
|
|
|
ENST00000555851.6:n.363G>T
|
|
|
|
ENST00000555900.5:c.1310G>T
|
ENSP00000451530.1:p.Ser437Ile
|
|
|
ENST00000556000.5:c.1948G>T
|
|
|
|
ENST00000556945.5:c.1811G>T
|
ENSP00000450474.1:p.Ser604Ile
|
|
|
ENST00000557491.1:n.1489G>T
|
|
|
|
ENST00000557607.5:c.1256G>T
|
ENSP00000452370.1:p.Ser419Ile
|
|
|
NM_001160103.1:c.2201G>T
|
NP_001153575.1:p.Ser734Ile
|
|
|
NM_001160104.1:c.2186G>T
|
NP_001153576.1:p.Ser729Ile
|
|
|
NM_024824.4:c.2204G>T
|
NP_079100.2:p.Ser735Ile
|
|
|
NM_207660.3:c.1733G>T
|
NP_997543.1:p.Ser578Ile
|
|
|
NM_207661.2:c.1709G>T
|
NP_997544.1:p.Ser570Ile
|
|
|
NM_207662.3:c.914G>T
|
NP_997545.2:p.Ser305Ile
|
|
|
XM_005268067.3:c.2189G>T
|
XP_005268124.1:p.Ser730Ile
|
|
|
XM_005268068.3:c.2129G>T
|
XP_005268125.1:p.Ser710Ile
|
|
|
XM_005268069.3:c.1811G>T
|
XP_005268126.1:p.Ser604Ile
|
|
|
XM_005268070.3:c.1808G>T
|
XP_005268127.1:p.Ser603Ile
|
|
|
XM_005268071.3:c.1736G>T
|
XP_005268128.1:p.Ser579Ile
|
|
|
XM_005268073.3:c.1310G>T
|
XP_005268130.1:p.Ser437Ile
|
|
|
XM_006720257.2:c.1235G>T
|
XP_006720320.1:p.Ser412Ile
|
|
|
XM_011537160.1:c.2102G>T
|
XP_011535462.1:p.Ser701Ile
|
|
|
XM_011537161.1:c.2048G>T
|
XP_011535463.1:p.Ser683Ile
|
|
|
NM_001326295.1:c.1811G>T
|
NP_001313224.1:p.Ser604Ile
|
|
|
NM_001326296.1:c.2126G>T
|
NP_001313225.1:p.Ser709Ile
|
|
|
NM_001326297.1:c.2102G>T
|
NP_001313226.1:p.Ser701Ile
|
|
|
NM_001326298.1:c.1736G>T
|
NP_001313227.1:p.Ser579Ile
|
|
|
NM_001326299.1:c.2111G>T
|
NP_001313228.1:p.Ser704Ile
|
|
|
NM_001326300.1:c.1739G>T
|
NP_001313229.1:p.Ser580Ile
|
|
|
NM_001326301.1:c.2027G>T
|
NP_001313230.1:p.Ser676Ile
|
|
|
NM_001326302.1:c.1736G>T
|
NP_001313231.1:p.Ser579Ile
|
|
|
NM_001326303.1:c.1631G>T
|
NP_001313232.1:p.Ser544Ile
|
|
|
NM_001326304.1:c.1343G>T
|
NP_001313233.1:p.Ser448Ile
|
|
|
NM_001326305.1:c.1664G>T
|
NP_001313234.1:p.Ser555Ile
|
|
|
NM_001326306.1:c.1577G>T
|
NP_001313235.1:p.Ser526Ile
|
|
|
NM_001326307.1:c.2129G>T
|
NP_001313236.1:p.Ser710Ile
|
|
|
NM_001326308.1:c.1346G>T
|
NP_001313237.1:p.Ser449Ile
|
|
|
NM_001326309.1:c.1271G>T
|
NP_001313238.1:p.Ser424Ile
|
|
|
NM_001326310.1:c.2189G>T
|
NP_001313239.1:p.Ser730Ile
|
|
|
NM_001326311.1:c.1268G>T
|
NP_001313240.1:p.Ser423Ile
|
|
|
NM_001326312.1:c.2114G>T
|
NP_001313241.1:p.Ser705Ile
|
|
|
NM_001326313.1:c.1580G>T
|
NP_001313242.1:p.Ser527Ile
|
|
|
NM_001326314.1:c.1661G>T
|
NP_001313243.1:p.Ser554Ile
|
|
|
NM_001326315.1:c.2099G>T
|
NP_001313244.1:p.Ser700Ile
|
|
|
NM_001326316.1:c.2099G>T
|
NP_001313245.1:p.Ser700Ile
|
|
|
NR_136936.1:n.2269G>T
|
|
|
|
XM_005268070.5:c.1808G>T
|
XP_005268127.1:p.Ser603Ile
|
|
|
XM_005268073.4:c.1310G>T
|
XP_005268130.1:p.Ser437Ile
|
|
|
XM_006720257.3:c.1235G>T
|
XP_006720320.1:p.Ser412Ile
|
|
|
XM_011537161.3:c.2048G>T
|
XP_011535463.1:p.Ser683Ile
|
|
|
XM_024449713.1:c.1232G>T
|
XP_024305481.1:p.Ser411Ile
|
|
|
NM_024824.5:c.2204G>T
MANE Select
|
NP_079100.2:p.Ser735Ile
|
|
|
NM_001160103.2:c.2201G>T
|
NP_001153575.1:p.Ser734Ile
|
|
|
NM_001160104.2:c.2186G>T
|
NP_001153576.1:p.Ser729Ile
|
|
|
NM_001326295.2:c.1811G>T
|
NP_001313224.1:p.Ser604Ile
|
|
|
NM_001326296.2:c.2126G>T
|
NP_001313225.1:p.Ser709Ile
|
|
|
NM_001326297.2:c.2102G>T
|
NP_001313226.1:p.Ser701Ile
|
|
|
NM_001326298.2:c.1736G>T
|
NP_001313227.1:p.Ser579Ile
|
|
|
NM_001326299.2:c.2111G>T
|
NP_001313228.1:p.Ser704Ile
|
|
|
NM_001326300.2:c.1739G>T
|
NP_001313229.1:p.Ser580Ile
|
|
|
NM_001326301.2:c.2027G>T
|
NP_001313230.1:p.Ser676Ile
|
|
|
NM_001326302.2:c.1736G>T
|
NP_001313231.1:p.Ser579Ile
|
|
|
NM_001326303.2:c.1631G>T
|
NP_001313232.1:p.Ser544Ile
|
|
|
NM_001326304.2:c.1343G>T
|
NP_001313233.1:p.Ser448Ile
|
|
|
NM_001326305.2:c.1664G>T
|
NP_001313234.1:p.Ser555Ile
|
|
|
NM_001326306.2:c.1577G>T
|
NP_001313235.1:p.Ser526Ile
|
|
|
NM_001326307.2:c.2129G>T
|
NP_001313236.1:p.Ser710Ile
|
|
|
NM_001326308.2:c.1346G>T
|
NP_001313237.1:p.Ser449Ile
|
|
|
NM_001326309.2:c.1271G>T
|
NP_001313238.1:p.Ser424Ile
|
|
|
NM_001326310.2:c.2189G>T
|
NP_001313239.1:p.Ser730Ile
|
|
|
NM_001326311.2:c.1268G>T
|
NP_001313240.1:p.Ser423Ile
|
|
|
NM_001326312.2:c.2114G>T
|
NP_001313241.1:p.Ser705Ile
|
|
|
NM_001326313.2:c.1580G>T
|
NP_001313242.1:p.Ser527Ile
|
|
|
NM_001326314.2:c.1661G>T
|
NP_001313243.1:p.Ser554Ile
|
|
|
NM_001326315.2:c.2099G>T
|
NP_001313244.1:p.Ser700Ile
|
|
|
NM_207660.4:c.1733G>T
|
NP_997543.1:p.Ser578Ile
|
|
|
NM_207662.4:c.914G>T
|
NP_997545.2:p.Ser305Ile
|
|
|
NR_136936.2:n.2141G>T
|
|
|
|
NM_001326316.2:c.2099G>T
|
NP_001313245.1:p.Ser700Ile
|
|
|
NM_207661.3:c.1709G>T
|
NP_997544.1:p.Ser570Ile
|
|
