ENST00000436096.3:n.504G>C
|
|
|
ENST00000507475.6:n.179-2320G>C
|
|
|
ENST00000681978.1:n.502G>C
|
|
|
ENST00000682178.1:n.1285G>C
|
|
|
ENST00000682345.1:c.*72G>C
|
ENSP00000508122.1:n.*72G>C
|
|
ENST00000682409.1:n.1949G>C
|
|
|
ENST00000682452.1:n.584G>C
|
|
|
ENST00000682456.1:c.253G>C
|
ENSP00000508240.1:p.Val85Leu
|
|
ENST00000682601.1:n.444G>C
|
|
|
ENST00000682734.1:c.-649-2320G>C
|
ENSP00000507860.1:n.-649-2320G>C
|
|
ENST00000682820.1:n.290G>C
|
|
|
ENST00000682910.1:n.560G>C
|
|
|
ENST00000683004.1:c.*90G>C
|
ENSP00000506936.1:n.*90G>C
|
|
ENST00000683079.1:c.253G>C
|
ENSP00000507296.1:p.Val85Leu
|
|
ENST00000683081.1:c.*90G>C
|
ENSP00000507722.1:n.*90G>C
|
|
ENST00000683305.1:c.70G>C
|
ENSP00000508043.1:p.Val24Leu
|
|
ENST00000683448.1:c.-90-2320G>C
|
ENSP00000506931.1:n.-90-2320G>C
|
|
ENST00000683478.1:c.253G>C
|
ENSP00000507793.1:p.Val85Leu
|
|
ENST00000683483.1:c.253G>C
|
ENSP00000507719.1:p.Val85Leu
|
|
ENST00000683750.1:n.376G>C
|
|
|
ENST00000683751.1:c.-90-2320G>C
|
ENSP00000506944.1:n.-90-2320G>C
|
|
ENST00000683799.1:n.1569G>C
|
|
|
ENST00000684036.1:c.70G>C
|
ENSP00000507276.1:p.Val24Leu
|
|
ENST00000684129.1:c.-694-2320G>C
|
ENSP00000507174.1:n.-694-2320G>C
|
|
ENST00000684209.1:n.493G>C
|
|
|
ENST00000684296.1:c.253G>C
|
ENSP00000507740.1:p.Val85Leu
|
|
ENST00000684505.1:c.253G>C
|
ENSP00000508237.1:p.Val85Leu
|
|
ENST00000684552.1:c.253G>C
|
ENSP00000506899.1:p.Val85Leu
|
|
ENST00000684611.1:n.1981G>C
|
|
|
ENST00000684622.1:c.253G>C
|
ENSP00000507546.1:p.Val85Leu
|
|
ENST00000684627.1:c.70G>C
|
ENSP00000507471.1:p.Val24Leu
|
|
ENST00000684641.1:c.253G>C
|
ENSP00000507642.1:p.Val85Leu
|
|
ENST00000684675.1:c.253G>C
|
ENSP00000506934.1:p.Val85Leu
|
|
ENST00000684749.1:n.322G>C
|
|
|
ENST00000511912.6:c.253G>C
MANE Select
|
ENSP00000426638.1:p.Val85Leu
|
|
ENST00000307738.5:c.112G>C
|
ENSP00000303552.5:p.Val38Leu
|
|
ENST00000436096.2:n.438G>C
|
|
|
ENST00000506422.1:n.86+9782G>C
|
|
|
ENST00000507475.5:c.-90-2320G>C
|
ENSP00000422735.1:n.-90-2320G>C
|
|
ENST00000511912.5:c.253G>C
|
ENSP00000426638.1:p.Val85Leu
|
|
ENST00000514148.1:n.331G>C
|
|
|
NM_001281737.1:c.112G>C
|
NP_001268666.1:p.Val38Leu
|
|
NM_001281738.1:c.70G>C
|
NP_001268667.1:p.Val24Leu
|
|
NM_004453.3:c.253G>C
|
NP_004444.2:p.Val85Leu
|
|
XM_024453935.1:c.70G>C
|
XP_024309703.1:p.Val24Leu
|
|
NM_004453.4:c.253G>C
MANE Select
|
NP_004444.2:p.Val85Leu
|
|
NM_001281737.2:c.112G>C
|
NP_001268666.1:p.Val38Leu
|
|