|
ENST00000547314.6:c.221T>A
|
ENSP00000449934.2:p.Leu74Ter
|
|
|
ENST00000552573.7:c.233T>A
|
ENSP00000447182.3:p.Leu78Ter
|
|
|
ENST00000548365.6:c.233T>A
|
ENSP00000448518.2:p.Leu78Ter
|
|
|
ENST00000549021.6:c.136+3493T>A
|
ENSP00000449028.2:n.136+3493T>A
|
|
|
ENST00000698941.1:c.233T>A
|
ENSP00000514048.1:p.Leu78Ter
|
|
|
ENST00000698942.1:c.*224T>A
|
ENSP00000514049.1:n.*224T>A
|
|
|
ENST00000374994.9:c.428T>A
MANE Select
|
ENSP00000364133.4:p.Leu143Ter
|
|
|
ENST00000374990.6:c.343+3493T>A
|
ENSP00000364129.2:n.343+3493T>A
|
|
|
ENST00000374994.8:c.428T>A
|
ENSP00000364133.4:p.Leu143Ter
|
|
|
ENST00000546584.1:c.221T>A
|
ENSP00000447707.2:p.Leu74Ter
|
|
|
ENST00000547314.5:c.221T>A
|
ENSP00000449934.1:p.Leu74Ter
|
|
|
ENST00000548365.5:c.233T>A
|
ENSP00000448518.1:p.Leu78Ter
|
|
|
ENST00000549021.5:c.136+3493T>A
|
ENSP00000449028.1:n.136+3493T>A
|
|
|
ENST00000549766.5:c.440T>A
|
ENSP00000446685.1:p.Leu147Ter
|
|
|
ENST00000550253.1:c.221T>A
|
ENSP00000450052.1:p.Leu74Ter
|
|
|
ENST00000552516.5:c.440T>A
|
ENSP00000447297.1:p.Leu147Ter
|
|
|
ENST00000552573.6:c.233T>A
|
ENSP00000447182.2:p.Leu78Ter
|
|
|
NM_001130916.1:c.343+3493T>A
|
NP_001124388.1:n.343+3493T>A
|
|
|
NM_001130916.2:c.343+3493T>A
|
NP_001124388.1:n.343+3493T>A
|
|
|
NM_001306210.1:c.440T>A
|
NP_001293139.1:p.Leu147Ter
|
|
|
NM_004612.2:c.428T>A
|
NP_004603.1:p.Leu143Ter
|
|
|
NM_004612.3:c.428T>A
|
NP_004603.1:p.Leu143Ter
|
|
|
XM_011518948.1:c.233T>A
|
XP_011517250.1:p.Leu78Ter
|
|
|
XM_011518949.1:c.221T>A
|
XP_011517251.1:p.Leu74Ter
|
|
|
XM_011518950.1:c.136+3493T>A
|
XP_011517252.1:n.136+3493T>A
|
|
|
XM_011518948.2:c.233T>A
|
XP_011517250.1:p.Leu78Ter
|
|
|
XM_011518949.2:c.221T>A
|
XP_011517251.1:p.Leu74Ter
|
|
|
XM_011518950.2:c.136+3493T>A
|
XP_011517252.1:n.136+3493T>A
|
|
|
XM_017015063.1:c.233T>A
|
XP_016870552.1:p.Leu78Ter
|
|
|
XM_024447658.1:c.221T>A
|
XP_024303426.1:p.Leu74Ter
|
|
|
NM_004612.4:c.428T>A
MANE Select
|
NP_004603.1:p.Leu143Ter
|
|
|
NM_001130916.3:c.343+3493T>A
|
NP_001124388.1:n.343+3493T>A
|
|
|
NM_001306210.2:c.440T>A
|
NP_001293139.1:p.Leu147Ter
|
|
