ENST00000366159.9:n.1789A>C
|
|
|
ENST00000437813.8:c.*149A>C
|
ENSP00000513672.1:n.*149A>C
|
|
ENST00000440083.7:c.907A>C
|
ENSP00000413224.3:p.Ile303Leu
|
|
ENST00000535038.2:n.870A>C
|
|
|
ENST00000535958.2:c.*515A>C
|
ENSP00000513673.1:n.*515A>C
|
|
ENST00000698337.1:n.678A>C
|
|
|
ENST00000698338.1:n.1102A>C
|
|
|
ENST00000698339.1:c.*183A>C
|
ENSP00000513670.1:n.*183A>C
|
|
ENST00000698340.1:c.614A>C
|
ENSP00000513671.1:p.His205Pro
|
|
ENST00000162749.7:c.688A>C
MANE Select
|
ENSP00000162749.2:p.Ile230Leu
|
|
ENST00000162749.6:c.688A>C
|
ENSP00000162749.2:p.Ile230Leu
|
|
ENST00000534885.5:c.*165A>C
|
ENSP00000441803.1:n.*165A>C
|
|
ENST00000535038.1:n.499A>C
|
|
|
ENST00000536717.5:n.592A>C
|
|
|
ENST00000537842.5:n.292A>C
|
|
|
ENST00000539372.5:c.688A>C
|
ENSP00000442059.1:p.Ile230Leu
|
|
ENST00000540022.5:c.559A>C
|
ENSP00000438343.1:p.Ile187Leu
|
|
ENST00000543359.5:n.100A>C
|
|
|
ENST00000543995.5:c.*275A>C
|
ENSP00000442405.1:n.*275A>C
|
|
NM_001065.3:c.688A>C , LRG_193t1:c.688A>C
|
NP_001056.1:p.Ile230Leu
|
|
NM_001346091.1:c.364A>C
|
NP_001333020.1:p.Ile122Leu
|
|
NM_001346092.1:c.229A>C
|
NP_001333021.1:p.Ile77Leu
|
|
NR_144351.1:n.917A>C
|
|
|
NM_001065.4:c.688A>C
MANE Select
|
NP_001056.1:p.Ile230Leu
|
|
NM_001346091.2:c.364A>C
|
NP_001333020.1:p.Ile122Leu
|
|
NM_001346092.2:c.229A>C
|
NP_001333021.1:p.Ile77Leu
|
|
NR_144351.2:n.876A>C
|
|
|