Linked Data
dbSNP Id:
rs766153385
ExAC:
13:52520549 C / A
gnomAD v2:
13-52520549-C-A
gnomAD v4:
13-51946413-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946413C>A , CM000675.2:g.51946413C>A | GRCh38 |
| NC_000013.10:g.52520549C>A , CM000675.1:g.52520549C>A | GRCh37 |
| NC_000013.9:g.51418550C>A | NCBI36 |
| NG_008806.1:g.70082G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*764G>T | ENSP00000489512.2:n.*764G>T | |
| ENST00000673864.2:c.*1675G>T | ENSP00000501045.2:n.*1675G>T | |
| ENST00000674147.2:c.2310G>T | ENSP00000500964.2:p.Thr770= | |
| ENST00000242839.10:c.2931G>T MANE Select | ENSP00000242839.5:p.Thr977= | |
| ENST00000344297.9:c.2310G>T | ENSP00000342559.5:p.Thr770= | |
| ENST00000400366.6:c.2598G>T | ENSP00000383217.3:p.Thr866= | |
| ENST00000448424.7:c.2679G>T | ENSP00000416738.3:p.Thr893= | |
| ENST00000673772.1:c.2697G>T | ENSP00000501168.1:p.Thr899= | |
| ENST00000673867.1:n.1078G>T | ||
| ENST00000674126.1:n.3294G>T | ||
| ENST00000674147.1:c.1866G>T | ENSP00000500964.1:p.Thr622= | |
| ENST00000242839.8:c.2931G>T | ENSP00000242839.4:p.Thr977= | |
| ENST00000344297.8:c.2310G>T | ENSP00000342559.5:p.Thr770= | |
| ENST00000400366.5:c.2598G>T | ENSP00000383217.3:p.Thr866= | |
| ENST00000400370.8:c.1641G>T | ENSP00000383221.3:p.Thr547= | |
| ENST00000418097.7:c.2866-2122G>T | ENSP00000393343.2:n.2866-2122G>T | |
| ENST00000448424.6:c.2697G>T | ENSP00000416738.2:p.Thr899= | |
| ENST00000466629.1:n.151G>T | ||
| ENST00000634296.1:c.892G>T | ||
| ENST00000634308.1:c.*32G>T | ENSP00000489234.1:n.*32G>T | |
| ENST00000634620.1:n.3675G>T | ||
| ENST00000634810.1:n.2276G>T | ||
| ENST00000634844.1:c.2787G>T | ENSP00000489398.1:p.Thr929= | |
| ENST00000635406.1:n.277G>T | ||
| NM_000053.3:c.2931G>T | NP_000044.2:p.Thr977= | |
| NM_001005918.2:c.2310G>T | NP_001005918.1:p.Thr770= | |
| NM_001243182.1:c.2598G>T | NP_001230111.1:p.Thr866= | |
| XM_005266423.2:c.2835G>T | XP_005266480.1:p.Thr945= | |
| XM_005266424.3:c.2835G>T | XP_005266481.1:p.Thr945= | |
| XM_005266427.2:c.2697G>T | XP_005266484.1:p.Thr899= | |
| XM_005266428.1:c.2679G>T | XP_005266485.1:p.Thr893= | |
| XM_005266430.3:c.2931G>T | XP_005266487.1:p.Thr977= | |
| XM_005266431.2:c.2895G>T | XP_005266488.1:p.Thr965= | |
| XM_005266432.2:c.2445G>T | XP_005266489.1:p.Thr815= | |
| XM_006719837.2:c.2835G>T | XP_006719900.1:p.Thr945= | |
| XM_006719838.1:c.747G>T | XP_006719901.1:p.Thr249= | |
| XM_006719839.1:c.747G>T | XP_006719902.1:p.Thr249= | |
| XM_011535117.1:c.2835G>T | XP_011533419.1:p.Thr945= | |
| XM_011535118.1:c.2796G>T | XP_011533420.1:p.Thr932= | |
| XM_011535119.1:c.2931G>T | XP_011533421.1:p.Thr977= | |
| XM_011535120.1:c.2517G>T | XP_011533422.1:p.Thr839= | |
| XM_011535121.1:c.2730+3594G>T | XP_011533423.1:n.2730+3594G>T | |
| XM_011535122.1:c.1599G>T | XP_011533424.1:p.Thr533= | |
| XR_941601.1:n.3150G>T | ||
| XR_941602.1:n.3150G>T | ||
| XR_941603.1:n.3150G>T | ||
| XR_941604.1:n.3150G>T | ||
| NM_001330578.1:c.2697G>T | NP_001317507.1:p.Thr899= | |
| NM_001330579.1:c.2679G>T | NP_001317508.1:p.Thr893= | |
| XM_005266424.4:c.2835G>T | XP_005266481.1:p.Thr945= | |
| XM_005266430.4:c.2931G>T | XP_005266487.1:p.Thr977= | |
| XM_005266431.4:c.2895G>T | XP_005266488.1:p.Thr965= | |
| XM_006719837.3:c.2835G>T | XP_006719900.1:p.Thr945= | |
| XM_011535117.3:c.2835G>T | XP_011533419.1:p.Thr945= | |
| XM_017020627.1:c.2835G>T | XP_016876116.1:p.Thr945= | |
| NM_000053.4:c.2931G>T MANE Select | NP_000044.2:p.Thr977= | |
| NM_001005918.3:c.2310G>T | NP_001005918.1:p.Thr770= | |
| NM_001330579.2:c.2679G>T | NP_001317508.1:p.Thr893= | |
| NM_001243182.2:c.2598G>T | NP_001230111.1:p.Thr866= | |
| NM_001330578.2:c.2697G>T | NP_001317507.1:p.Thr899= |