Linked Data
ClinVar Variation Id:
426793
dbSNP Id:
rs778879482
ExAC:
14:105181034 A / G
gnomAD v2:
14-105181034-A-G
gnomAD v3:
14-104714697-A-G
gnomAD v4:
14-104714697-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714697A>G , CM000676.2:g.104714697A>G | GRCh38 |
| NC_000014.8:g.105181034A>G , CM000676.1:g.105181034A>G | GRCh37 |
| NC_000014.7:g.104252079A>G | NCBI36 |
| NG_027684.1:g.30092A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3535A>G MANE Select | ENSP00000376410.4:p.Thr1179Ala | |
| ENST00000617571.5:c.3531A>G | ENSP00000483829.2:n.3531A>G | |
| ENST00000674520.1:c.3530A>G | ENSP00000502593.1:n.3530A>G | |
| ENST00000674631.1:c.1573A>G | ENSP00000502830.1:p.Thr525Ala | |
| ENST00000674662.1:c.3539A>G | ENSP00000501895.1:n.3539A>G | |
| ENST00000674757.1:c.3540A>G | ENSP00000502202.1:n.3540A>G | |
| ENST00000674822.1:c.3419A>G | ENSP00000501552.1:n.3419A>G | |
| ENST00000674846.1:c.3530A>G | ENSP00000502431.1:n.3530A>G | |
| ENST00000674857.1:c.3524A>G | ENSP00000501687.1:n.3524A>G | |
| ENST00000674960.1:c.3393A>G | ENSP00000501841.1:n.3393A>G | |
| ENST00000674991.1:c.2785A>G | ENSP00000502004.1:p.Thr929Ala | |
| ENST00000675207.1:c.3631A>G | ENSP00000502644.1:p.Thr1211Ala | |
| ENST00000675329.1:c.3511A>G | ENSP00000502287.1:p.Thr1171Ala | |
| ENST00000675481.1:c.3535A>G | ENSP00000502723.1:p.Thr1179Ala | |
| ENST00000675583.1:c.3464A>G | ENSP00000501740.1:n.3464A>G | |
| ENST00000675603.1:n.775A>G | ||
| ENST00000675638.1:c.3454A>G | ENSP00000501647.1:p.Thr1152Ala | |
| ENST00000675724.1:c.3473A>G | ENSP00000502576.1:n.3473A>G | |
| ENST00000675771.1:c.2798A>G | ENSP00000502104.1:n.2798A>G | |
| ENST00000675797.1:c.2940A>G | ENSP00000502023.1:n.2940A>G | |
| ENST00000675809.1:c.3590A>G | ENSP00000502587.1:n.3590A>G | |
| ENST00000675930.1:c.3423A>G | ENSP00000502456.1:p.Thr1141= | |
| ENST00000675980.1:c.3553A>G | ENSP00000502520.1:p.Thr1185Ala | |
| ENST00000676016.1:c.3434A>G | ENSP00000502412.1:n.3434A>G | |
| ENST00000676366.1:c.3342A>G | ENSP00000501605.1:p.Thr1114= | |
| ENST00000252527.8:c.1939A>G | ENSP00000252527.8:p.Thr647Ala | |
| ENST00000330634.11:c.3535A>G | ENSP00000376406.3:p.Thr1179Ala | |
| ENST00000392634.8:c.3535A>G | ENSP00000376410.4:p.Thr1179Ala | |
| ENST00000617571.4:c.-599A>G | ENSP00000483829.1:n.-599A>G | |
| NM_001031714.3:c.3535A>G | NP_001026884.3:p.Thr1179Ala | |
| NM_022489.3:c.3535A>G | NP_071934.3:p.Thr1179Ala | |
| XM_005268004.3:c.3631A>G | XP_005268061.1:p.Thr1211Ala | |
| XM_005268005.3:c.3631A>G | XP_005268062.1:p.Thr1211Ala | |
| XR_943507.1:n.3760A>G | ||
| XM_005268004.4:c.3631A>G | XP_005268061.1:p.Thr1211Ala | |
| XM_005268005.4:c.3631A>G | XP_005268062.1:p.Thr1211Ala | |
| XM_017021595.1:c.3631A>G | XP_016877084.1:p.Thr1211Ala | |
| NM_001031714.4:c.3535A>G | NP_001026884.3:p.Thr1179Ala | |
| NM_022489.4:c.3535A>G MANE Select | NP_071934.3:p.Thr1179Ala |