Linked Data
ClinVar Variation Id:
188802
dbSNP Id:
rs201497300
ExAC:
13:52520473 C / T
gnomAD v2:
13-52520473-C-T
gnomAD v3:
13-51946337-C-T
gnomAD v4:
13-51946337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946337C>T , CM000675.2:g.51946337C>T | GRCh38 |
| NC_000013.10:g.52520473C>T , CM000675.1:g.52520473C>T | GRCh37 |
| NC_000013.9:g.51418474C>T | NCBI36 |
| NG_008806.1:g.70158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*840G>A | ENSP00000489512.2:n.*840G>A | |
| ENST00000673864.2:c.*1751G>A | ENSP00000501045.2:n.*1751G>A | |
| ENST00000674147.2:c.2386G>A | ENSP00000500964.2:p.Ala796Thr | |
| ENST00000242839.10:c.3007G>A MANE Select | ENSP00000242839.5:p.Ala1003Thr | |
| ENST00000344297.9:c.2386G>A | ENSP00000342559.5:p.Ala796Thr | |
| ENST00000400366.6:c.2674G>A | ENSP00000383217.3:p.Ala892Thr | |
| ENST00000448424.7:c.2755G>A | ENSP00000416738.3:p.Ala919Thr | |
| ENST00000673772.1:c.2773G>A | ENSP00000501168.1:p.Ala925Thr | |
| ENST00000673867.1:n.1154G>A | ||
| ENST00000674126.1:n.3370G>A | ||
| ENST00000674147.1:c.1942G>A | ENSP00000500964.1:p.Ala648Thr | |
| ENST00000242839.8:c.3007G>A | ENSP00000242839.4:p.Ala1003Thr | |
| ENST00000344297.8:c.2386G>A | ENSP00000342559.5:p.Ala796Thr | |
| ENST00000400366.5:c.2674G>A | ENSP00000383217.3:p.Ala892Thr | |
| ENST00000400370.8:c.1717G>A | ENSP00000383221.3:p.Ala573Thr | |
| ENST00000418097.7:c.2866-2046G>A | ENSP00000393343.2:n.2866-2046G>A | |
| ENST00000448424.6:c.2773G>A | ENSP00000416738.2:p.Ala925Thr | |
| ENST00000466629.1:n.227G>A | ||
| ENST00000634296.1:c.968G>A | ||
| ENST00000634308.1:c.*108G>A | ENSP00000489234.1:n.*108G>A | |
| ENST00000634620.1:n.3751G>A | ||
| ENST00000634810.1:n.2352G>A | ||
| ENST00000634844.1:c.2863G>A | ENSP00000489398.1:p.Ala955Thr | |
| ENST00000635406.1:n.353G>A | ||
| NM_000053.3:c.3007G>A | NP_000044.2:p.Ala1003Thr | |
| NM_001005918.2:c.2386G>A | NP_001005918.1:p.Ala796Thr | |
| NM_001243182.1:c.2674G>A | NP_001230111.1:p.Ala892Thr | |
| XM_005266423.2:c.2911G>A | XP_005266480.1:p.Ala971Thr | |
| XM_005266424.3:c.2911G>A | XP_005266481.1:p.Ala971Thr | |
| XM_005266427.2:c.2773G>A | XP_005266484.1:p.Ala925Thr | |
| XM_005266428.1:c.2755G>A | XP_005266485.1:p.Ala919Thr | |
| XM_005266430.3:c.3007G>A | XP_005266487.1:p.Ala1003Thr | |
| XM_005266431.2:c.2971G>A | XP_005266488.1:p.Ala991Thr | |
| XM_005266432.2:c.2521G>A | XP_005266489.1:p.Ala841Thr | |
| XM_006719837.2:c.2911G>A | XP_006719900.1:p.Ala971Thr | |
| XM_006719838.1:c.823G>A | XP_006719901.1:p.Ala275Thr | |
| XM_006719839.1:c.823G>A | XP_006719902.1:p.Ala275Thr | |
| XM_011535117.1:c.2911G>A | XP_011533419.1:p.Ala971Thr | |
| XM_011535118.1:c.2872G>A | XP_011533420.1:p.Ala958Thr | |
| XM_011535119.1:c.3007G>A | XP_011533421.1:p.Ala1003Thr | |
| XM_011535120.1:c.2593G>A | XP_011533422.1:p.Ala865Thr | |
| XM_011535121.1:c.2730+3670G>A | XP_011533423.1:n.2730+3670G>A | |
| XM_011535122.1:c.1675G>A | XP_011533424.1:p.Ala559Thr | |
| XR_941601.1:n.3226G>A | ||
| XR_941602.1:n.3226G>A | ||
| XR_941603.1:n.3226G>A | ||
| XR_941604.1:n.3226G>A | ||
| NM_001330578.1:c.2773G>A | NP_001317507.1:p.Ala925Thr | |
| NM_001330579.1:c.2755G>A | NP_001317508.1:p.Ala919Thr | |
| XM_005266424.4:c.2911G>A | XP_005266481.1:p.Ala971Thr | |
| XM_005266430.4:c.3007G>A | XP_005266487.1:p.Ala1003Thr | |
| XM_005266431.4:c.2971G>A | XP_005266488.1:p.Ala991Thr | |
| XM_006719837.3:c.2911G>A | XP_006719900.1:p.Ala971Thr | |
| XM_011535117.3:c.2911G>A | XP_011533419.1:p.Ala971Thr | |
| XM_017020627.1:c.2911G>A | XP_016876116.1:p.Ala971Thr | |
| NM_000053.4:c.3007G>A MANE Select | NP_000044.2:p.Ala1003Thr | |
| NM_001005918.3:c.2386G>A | NP_001005918.1:p.Ala796Thr | |
| NM_001330579.2:c.2755G>A | NP_001317508.1:p.Ala919Thr | |
| NM_001243182.2:c.2674G>A | NP_001230111.1:p.Ala892Thr | |
| NM_001330578.2:c.2773G>A | NP_001317507.1:p.Ala925Thr |