|
ENST00000700029.2:c.513G>C
|
ENSP00000514759.2:p.Gln171His
|
|
|
ENST00000710265.1:c.513G>C
|
ENSP00000518161.1:p.Gln171His
|
|
|
ENST00000472832.3:c.513G>C
|
ENSP00000483066.2:p.Gln171His
|
|
|
ENST00000688158.2:n.1248G>C
|
|
|
|
ENST00000688922.2:c.*343G>C
|
ENSP00000508742.2:n.*343G>C
|
|
|
ENST00000700021.1:c.468G>C
|
ENSP00000514757.1:p.Gln156His
|
|
|
ENST00000700022.1:c.493-5715G>C
|
ENSP00000514758.1:n.493-5715G>C
|
|
|
ENST00000700023.1:n.1671G>C
|
|
|
|
ENST00000700024.1:n.1905G>C
|
|
|
|
ENST00000700025.1:n.1282G>C
|
|
|
|
ENST00000700029.1:c.347G>C
|
|
|
|
ENST00000706954.1:c.513G>C
|
ENSP00000516674.1:p.Gln171His
|
|
|
ENST00000706955.1:c.*548G>C
|
ENSP00000516675.1:n.*548G>C
|
|
|
ENST00000686459.1:c.*99G>C
|
ENSP00000508909.1:n.*99G>C
|
|
|
ENST00000688158.1:c.*624G>C
|
ENSP00000509254.1:n.*624G>C
|
|
|
ENST00000688308.1:c.513G>C
|
ENSP00000508752.1:p.Gln171His
|
|
|
ENST00000688922.1:c.434G>C
|
|
|
|
ENST00000693560.1:c.1032G>C
|
ENSP00000509861.1:p.Gln344His
|
|
|
ENST00000371953.8:c.513G>C
MANE Select
|
ENSP00000361021.3:p.Gln171His
|
|
|
ENST00000371953.7:c.513G>C
|
ENSP00000361021.3:p.Gln171His
|
|
|
NM_000314.5:c.513G>C
|
NP_000305.3:p.Gln171His
|
|
|
NM_000314.6:c.513G>C
|
NP_000305.3:p.Gln171His
|
|
|
NM_001304717.2:c.1032G>C
|
NP_001291646.2:p.Gln344His
|
|
|
NM_001304718.1:c.-79G>C
|
NP_001291647.1:n.-79G>C
|
|
|
XM_006717926.2:c.468G>C
|
XP_006717989.1:p.Gln156His
|
|
|
XM_011539981.1:c.513G>C
|
XP_011538283.1:p.Gln171His
|
|
|
XM_011539982.1:c.417G>C
|
XP_011538284.1:p.Gln139His
|
|
|
XR_945789.1:n.1384G>C
|
|
|
|
XR_945790.1:n.1501G>C
|
|
|
|
XR_945791.1:n.1205-5715G>C
|
|
|
|
NM_000314.7:c.513G>C
|
NP_000305.3:p.Gln171His
|
|
|
NM_001304717.5:c.1032G>C
|
NP_001291646.4:p.Gln344His
|
|
|
NM_001304718.2:c.-79G>C
|
NP_001291647.1:n.-79G>C
|
|
|
NM_000314.8:c.513G>C
MANE Select
|
NP_000305.3:p.Gln171His
|
|
