ENST00000413740.2:c.1790G>A
|
ENSP00000416476.2:p.Ser597Asn
|
|
ENST00000429117.6:c.1932G>A
|
ENSP00000407019.2:p.Gln644=
|
|
ENST00000456676.7:c.2019G>A
|
ENSP00000416687.3:p.Gln673=
|
|
ENST00000492474.6:c.1503G>A
|
ENSP00000518393.1:p.Gln501=
|
|
ENST00000616768.6:c.2133G>A
|
ENSP00000480669.3:p.Gln711=
|
|
ENST00000673673.2:c.2061G>A
|
ENSP00000500979.2:p.Gln687=
|
|
ENST00000231790.8:c.2226G>A
MANE Select
|
ENSP00000231790.3:p.Gln742=
|
|
ENST00000413212.2:c.*1144G>A
|
ENSP00000400844.2:n.*1144G>A
|
|
ENST00000432299.6:c.*2058G>A
|
ENSP00000416783.1:n.*2058G>A
|
|
ENST00000447829.6:c.*1337G>A
|
ENSP00000399329.2:n.*1337G>A
|
|
ENST00000539477.6:c.1503G>A
|
ENSP00000443665.1:p.Gln501=
|
|
ENST00000616768.5:c.1170G>A
|
ENSP00000480669.2:p.Gln390=
|
|
ENST00000673673.1:c.2014G>A
|
|
|
ENST00000673741.1:n.1260G>A
|
|
|
ENST00000673889.1:n.1608G>A
|
|
|
ENST00000673897.1:c.*2018G>A
|
ENSP00000501109.1:n.*2018G>A
|
|
ENST00000673899.1:c.1494G>A
|
ENSP00000501030.1:p.Gln498=
|
|
ENST00000673947.1:c.*2366G>A
|
ENSP00000501304.1:n.*2366G>A
|
|
ENST00000673972.1:c.*2104G>A
|
ENSP00000501281.1:n.*2104G>A
|
|
ENST00000674019.1:c.1503G>A
|
ENSP00000501081.1:p.Gln501=
|
|
ENST00000674111.1:c.*455G>A
|
ENSP00000501162.1:n.*455G>A
|
|
ENST00000674125.1:n.937G>A
|
|
|
ENST00000231790.6:c.2226G>A
|
ENSP00000231790.2:p.Gln742=
|
|
ENST00000435176.5:c.1932G>A
|
ENSP00000402564.1:p.Gln644=
|
|
ENST00000455445.6:c.1503G>A
|
ENSP00000398272.2:p.Gln501=
|
|
ENST00000456676.6:c.1994G>A
|
|
|
ENST00000458205.6:c.1503G>A
|
ENSP00000402667.2:p.Gln501=
|
|
ENST00000536378.5:c.1503G>A
|
ENSP00000444286.2:p.Gln501=
|
|
ENST00000539477.5:c.1503G>A
|
ENSP00000443665.1:p.Gln501=
|
|
NM_000249.3:c.2226G>A , LRG_216t1:c.2226G>A
|
NP_000240.1:p.Gln742=
|
|
NM_001167617.1:c.1932G>A
|
NP_001161089.1:p.Gln644=
|
|
NM_001167618.1:c.1503G>A
|
NP_001161090.1:p.Gln501=
|
|
NM_001167619.1:c.1503G>A
|
NP_001161091.1:p.Gln501=
|
|
NM_001258271.1:c.2019G>A
|
NP_001245200.1:p.Gln673=
|
|
NM_001258273.1:c.1503G>A
|
NP_001245202.1:p.Gln501=
|
|
NM_001258274.1:c.1503G>A
|
NP_001245203.1:p.Gln501=
|
|
XM_005265161.1:c.2019G>A
|
XP_005265218.1:p.Gln673=
|
|
XM_005265163.1:c.1503G>A
|
XP_005265220.1:p.Gln501=
|
|
XM_005265164.1:c.1503G>A
|
XP_005265221.1:p.Gln501=
|
|
XM_005265166.1:c.1203G>A
|
XP_005265223.1:p.Gln401=
|
|
XM_011533727.1:c.1152G>A
|
XP_011532029.1:p.Gln384=
|
|
NM_001167617.2:c.1932G>A
|
NP_001161089.1:p.Gln644=
|
|
NM_001167618.2:c.1503G>A
|
NP_001161090.1:p.Gln501=
|
|
NM_001167619.2:c.1503G>A
|
NP_001161091.1:p.Gln501=
|
|
NM_001258274.2:c.1503G>A
|
NP_001245203.1:p.Gln501=
|
|
NM_001354615.1:c.1503G>A
|
NP_001341544.1:p.Gln501=
|
|
NM_001354616.1:c.1503G>A
|
NP_001341545.1:p.Gln501=
|
|
NM_001354617.1:c.1503G>A
|
NP_001341546.1:p.Gln501=
|
|
NM_001354618.1:c.1503G>A
|
NP_001341547.1:p.Gln501=
|
|
NM_001354619.1:c.1503G>A
|
NP_001341548.1:p.Gln501=
|
|
NM_001354620.1:c.1932G>A
|
NP_001341549.1:p.Gln644=
|
|
NM_001354621.1:c.1203G>A
|
NP_001341550.1:p.Gln401=
|
|
NM_001354622.1:c.1203G>A
|
NP_001341551.1:p.Gln401=
|
|
NM_001354623.1:c.1203G>A
|
NP_001341552.1:p.Gln401=
|
|
NM_001354624.1:c.1152G>A
|
NP_001341553.1:p.Gln384=
|
|
NM_001354625.1:c.1152G>A
|
NP_001341554.1:p.Gln384=
|
|
NM_001354626.1:c.1152G>A
|
NP_001341555.1:p.Gln384=
|
|
NM_001354627.1:c.1152G>A
|
NP_001341556.1:p.Gln384=
|
|
NM_001354628.1:c.2133G>A
|
NP_001341557.1:p.Gln711=
|
|
NM_001354629.1:c.2127G>A
|
NP_001341558.1:p.Gln709=
|
|
NM_001354630.1:c.2061G>A
|
NP_001341559.1:p.Gln687=
|
|
XM_005265161.2:c.2019G>A
|
XP_005265218.1:p.Gln673=
|
|
XM_017006450.2:c.1203G>A
|
XP_016861939.1:p.Gln401=
|
|
NM_000249.4:c.2226G>A
MANE Select
|
NP_000240.1:p.Gln742=
|
|
NM_001167617.3:c.1932G>A
|
NP_001161089.1:p.Gln644=
|
|
NM_001167618.3:c.1503G>A
|
NP_001161090.1:p.Gln501=
|
|
NM_001167619.3:c.1503G>A
|
NP_001161091.1:p.Gln501=
|
|
NM_001258271.2:c.2019G>A
|
NP_001245200.1:p.Gln673=
|
|
NM_001258273.2:c.1503G>A
|
NP_001245202.1:p.Gln501=
|
|
NM_001258274.3:c.1503G>A
|
NP_001245203.1:p.Gln501=
|
|
NM_001354615.2:c.1503G>A
|
NP_001341544.1:p.Gln501=
|
|
NM_001354616.2:c.1503G>A
|
NP_001341545.1:p.Gln501=
|
|
NM_001354617.2:c.1503G>A
|
NP_001341546.1:p.Gln501=
|
|
NM_001354618.2:c.1503G>A
|
NP_001341547.1:p.Gln501=
|
|
NM_001354619.2:c.1503G>A
|
NP_001341548.1:p.Gln501=
|
|
NM_001354620.2:c.1932G>A
|
NP_001341549.1:p.Gln644=
|
|
NM_001354621.2:c.1203G>A
|
NP_001341550.1:p.Gln401=
|
|
NM_001354622.2:c.1203G>A
|
NP_001341551.1:p.Gln401=
|
|
NM_001354623.2:c.1203G>A
|
NP_001341552.1:p.Gln401=
|
|
NM_001354624.2:c.1152G>A
|
NP_001341553.1:p.Gln384=
|
|
NM_001354625.2:c.1152G>A
|
NP_001341554.1:p.Gln384=
|
|
NM_001354626.2:c.1152G>A
|
NP_001341555.1:p.Gln384=
|
|
NM_001354627.2:c.1152G>A
|
NP_001341556.1:p.Gln384=
|
|
NM_001354628.2:c.2133G>A
|
NP_001341557.1:p.Gln711=
|
|
NM_001354629.2:c.2127G>A
|
NP_001341558.1:p.Gln709=
|
|
NM_001354630.2:c.2061G>A
|
NP_001341559.1:p.Gln687=
|
|