ENST00000470050.2:c.1704G>C
|
ENSP00000515580.1:p.Gln568His
|
|
ENST00000703945.1:c.1620G>C
|
ENSP00000515578.1:p.Gln540His
|
|
ENST00000703946.1:c.1265+4371G>C
|
ENSP00000515579.1:n.1265+4371G>C
|
|
ENST00000703947.1:c.1314G>C
|
ENSP00000515581.1:p.Gln438His
|
|
ENST00000703948.1:c.*1321G>C
|
ENSP00000515582.1:n.*1321G>C
|
|
ENST00000703949.1:c.1704G>C
|
ENSP00000515583.1:p.Gln568His
|
|
ENST00000703950.1:c.1704G>C
|
ENSP00000515584.1:p.Gln568His
|
|
ENST00000703951.1:c.1265+4371G>C
|
ENSP00000515585.1:n.1265+4371G>C
|
|
ENST00000703952.1:c.1265+4371G>C
|
ENSP00000515586.1:n.1265+4371G>C
|
|
ENST00000703953.1:c.*967G>C
|
ENSP00000515587.1:n.*967G>C
|
|
ENST00000703954.1:c.1584G>C
|
ENSP00000515588.1:p.Gln528His
|
|
ENST00000703955.1:n.2254G>C
|
|
|
ENST00000703957.1:n.209G>C
|
|
|
ENST00000298649.8:c.1701G>C
|
ENSP00000298649.3:p.Gln567His
|
|
ENST00000359426.7:c.1704G>C
MANE Select
|
ENSP00000352398.6:p.Gln568His
|
|
ENST00000436817.6:c.1716G>C
|
ENSP00000415949.2:p.Gln572His
|
|
ENST00000493591.6:c.*1592G>C
|
ENSP00000494917.1:n.*1592G>C
|
|
ENST00000643399.2:c.1716G>C
MANE Plus Clinical
|
ENSP00000494664.1:p.Gln572His
|
|
ENST00000298649.7:c.1701G>C
|
ENSP00000298649.3:p.Gln567His
|
|
ENST00000359426.6:c.1704G>C
|
ENSP00000352398.6:p.Gln568His
|
|
ENST00000360289.6:c.1668G>C
|
ENSP00000353433.2:p.Gln556His
|
|
ENST00000448642.6:c.1716G>C
|
ENSP00000402103.3:p.Gln572His
|
|
ENST00000494253.1:n.1930G>C
|
|
|
NM_000188.2:c.1704G>C
|
NP_000179.2:p.Gln568His
|
|
NM_033496.2:c.1701G>C
|
NP_277031.1:p.Gln567His
|
|
NM_033497.2:c.1716G>C
|
NP_277032.1:p.Gln572His
|
|
NM_033498.2:c.1716G>C
|
NP_277033.1:p.Gln572His
|
|
NM_033500.2:c.1668G>C , LRG_365t1:c.1668G>C
|
NP_277035.2:p.Gln556His
|
|
XM_005269735.2:c.1833G>C
|
XP_005269792.1:p.Gln611His
|
|
XM_005269736.1:c.1716G>C
|
XP_005269793.1:p.Gln572His
|
|
XM_005269737.1:c.1620G>C
|
XP_005269794.1:p.Gln540His
|
|
XM_011539732.1:c.1668G>C
|
XP_011538034.1:p.Gln556His
|
|
XM_011539733.1:c.1662G>C
|
XP_011538035.1:p.Gln554His
|
|
XM_011539734.1:c.1659G>C
|
XP_011538036.1:p.Gln553His
|
|
NM_001322364.1:c.1716G>C
|
NP_001309293.1:p.Gln572His
|
|
NM_001322365.1:c.1809G>C
|
NP_001309294.1:p.Gln603His
|
|
NM_001322366.1:c.1620G>C
|
NP_001309295.1:p.Gln540His
|
|
NM_001322367.1:c.1608G>C
|
NP_001309296.1:p.Gln536His
|
|
NM_001358263.1:c.1716G>C
MANE Plus Clinical
|
NP_001345192.1:p.Gln572His
|
|
XM_024447969.1:c.1716G>C
|
XP_024303737.1:p.Gln572His
|
|
NM_000188.3:c.1704G>C
MANE Select
|
NP_000179.2:p.Gln568His
|
|
NM_001322364.2:c.1716G>C
|
NP_001309293.1:p.Gln572His
|
|
NM_001322365.2:c.1809G>C
|
NP_001309294.1:p.Gln603His
|
|
NM_033496.3:c.1701G>C
|
NP_277031.1:p.Gln567His
|
|
NM_033497.3:c.1716G>C
|
NP_277032.1:p.Gln572His
|
|
NM_033498.3:c.1716G>C
|
NP_277033.1:p.Gln572His
|
|