ENST00000529510.6:n.368G>C
|
|
|
ENST00000697846.1:n.368G>C
|
|
|
ENST00000697847.1:n.368G>C
|
|
|
ENST00000697848.1:n.368G>C
|
|
|
ENST00000697849.1:n.612G>C
|
|
|
ENST00000697850.1:n.368G>C
|
|
|
ENST00000697851.1:n.612G>C
|
|
|
ENST00000638186.1:n.442G>C
|
|
|
ENST00000638360.1:n.376G>C
|
|
|
ENST00000638925.1:n.375G>C
|
|
|
ENST00000650539.1:n.544G>C
|
|
|
ENST00000330775.9:c.139G>C
|
ENSP00000476242.2:p.Asp47His
|
|
ENST00000357590.9:c.139G>C
|
ENSP00000476176.2:p.Asp47His
|
|
ENST00000524428.5:n.139G>C
|
|
|
ENST00000525039.5:n.562G>C
|
|
|
ENST00000525102.5:n.896G>C
|
|
|
ENST00000525372.5:n.139G>C
|
|
|
ENST00000525787.1:n.434G>C
|
|
|
ENST00000526626.6:n.334G>C
|
|
|
ENST00000527992.5:n.366G>C
|
|
|
ENST00000529510.5:n.157G>C
|
|
|
ENST00000530407.5:n.197+161G>C
|
|
|
ENST00000532085.1:n.1633G>C
|
|
|
ENST00000532888.6:n.334G>C
|
|
|
ENST00000534384.1:n.359G>C
|
|
|
ENST00000538950.5:c.-172+161G>C
|
ENSP00000475991.2:n.-172+161G>C
|
|
ENST00000545985.5:c.139G>C
|
ENSP00000475241.2:p.Asp47His
|
|
NM_001164277.1:c.139G>C , LRG_187t1:c.139G>C
|
NP_001157749.1:p.Asp47His
|
|
NM_001164278.1:c.139G>C
|
NP_001157750.1:p.Asp47His
|
|
NM_001164279.1:c.-172+161G>C
|
NP_001157751.1:n.-172+161G>C
|
|
NM_001164280.1:c.139G>C
|
NP_001157752.1:p.Asp47His
|
|
NM_001467.5:c.139G>C
|
NP_001458.1:p.Asp47His
|
|
NM_001164278.2:c.139G>C
|
NP_001157750.1:p.Asp47His
|
|
NM_001164279.2:c.-172+161G>C
|
NP_001157751.1:n.-172+161G>C
|
|
NM_001164280.2:c.139G>C
|
NP_001157752.1:p.Asp47His
|
|
NM_001467.6:c.139G>C
|
NP_001458.1:p.Asp47His
|
|
NM_001164277.2:c.139G>C
MANE Select
|
NP_001157749.1:p.Asp47His
|
|