Linked Data
ClinVar Variation Id:
371498
dbSNP Id:
rs775541743
ExAC:
13:52516617 A / T
gnomAD v2:
13-52516617-A-T
gnomAD v4:
13-51942481-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942481A>T , CM000675.2:g.51942481A>T | GRCh38 |
| NC_000013.10:g.52516617A>T , CM000675.1:g.52516617A>T | GRCh37 |
| NC_000013.9:g.51414618A>T | NCBI36 |
| NG_008806.1:g.74014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*967T>A | ENSP00000489512.2:n.*967T>A | |
| ENST00000673864.2:c.*2061T>A | ENSP00000501045.2:n.*2061T>A | |
| ENST00000674147.2:c.2696T>A | ENSP00000500964.2:p.Val899Asp | |
| ENST00000242839.10:c.3317T>A MANE Select | ENSP00000242839.5:p.Val1106Asp | |
| ENST00000344297.9:c.2696T>A | ENSP00000342559.5:p.Val899Asp | |
| ENST00000400366.6:c.2984T>A | ENSP00000383217.3:p.Val995Asp | |
| ENST00000448424.7:c.3065T>A | ENSP00000416738.3:p.Val1022Asp | |
| ENST00000673772.1:c.3083T>A | ENSP00000501168.1:p.Val1028Asp | |
| ENST00000673867.1:n.3456T>A | ||
| ENST00000674126.1:n.3680T>A | ||
| ENST00000674147.1:c.2252T>A | ENSP00000500964.1:p.Val751Asp | |
| ENST00000242839.8:c.3317T>A | ENSP00000242839.4:p.Val1106Asp | |
| ENST00000344297.8:c.2696T>A | ENSP00000342559.5:p.Val899Asp | |
| ENST00000400366.5:c.2984T>A | ENSP00000383217.3:p.Val995Asp | |
| ENST00000400370.8:c.2027T>A | ENSP00000383221.3:p.Val676Asp | |
| ENST00000418097.7:c.3122T>A | ENSP00000393343.2:p.Val1041Asp | |
| ENST00000448424.6:c.3083T>A | ENSP00000416738.2:p.Val1028Asp | |
| ENST00000634296.1:c.1095T>A | ||
| ENST00000634308.1:c.*418T>A | ENSP00000489234.1:n.*418T>A | |
| ENST00000634620.1:n.4061T>A | ||
| ENST00000634810.1:n.2662T>A | ||
| ENST00000634844.1:c.3173T>A | ENSP00000489398.1:p.Val1058Asp | |
| NM_000053.3:c.3317T>A | NP_000044.2:p.Val1106Asp | |
| NM_001005918.2:c.2696T>A | NP_001005918.1:p.Val899Asp | |
| NM_001243182.1:c.2984T>A | NP_001230111.1:p.Val995Asp | |
| XM_005266423.2:c.3221T>A | XP_005266480.1:p.Val1074Asp | |
| XM_005266424.3:c.3221T>A | XP_005266481.1:p.Val1074Asp | |
| XM_005266427.2:c.3083T>A | XP_005266484.1:p.Val1028Asp | |
| XM_005266428.1:c.3065T>A | XP_005266485.1:p.Val1022Asp | |
| XM_005266430.3:c.3317T>A | XP_005266487.1:p.Val1106Asp | |
| XM_005266431.2:c.3281T>A | XP_005266488.1:p.Val1094Asp | |
| XM_005266432.2:c.2831T>A | XP_005266489.1:p.Val944Asp | |
| XM_006719837.2:c.3221T>A | XP_006719900.1:p.Val1074Asp | |
| XM_006719838.1:c.1133T>A | XP_006719901.1:p.Val378Asp | |
| XM_006719839.1:c.950T>A | XP_006719902.1:p.Val317Asp | |
| XM_011535117.1:c.3221T>A | XP_011533419.1:p.Val1074Asp | |
| XM_011535118.1:c.3182T>A | XP_011533420.1:p.Val1061Asp | |
| XM_011535119.1:c.3134T>A | XP_011533421.1:p.Val1045Asp | |
| XM_011535120.1:c.2903T>A | XP_011533422.1:p.Val968Asp | |
| XM_011535121.1:c.2804T>A | XP_011533423.1:p.Val935Asp | |
| XM_011535122.1:c.1985T>A | XP_011533424.1:p.Val662Asp | |
| XR_941601.1:n.3536T>A | ||
| XR_941602.1:n.3536T>A | ||
| XR_941603.1:n.3536T>A | ||
| XR_941604.1:n.3536T>A | ||
| NM_001330578.1:c.3083T>A | NP_001317507.1:p.Val1028Asp | |
| NM_001330579.1:c.3065T>A | NP_001317508.1:p.Val1022Asp | |
| XM_005266424.4:c.3221T>A | XP_005266481.1:p.Val1074Asp | |
| XM_005266430.4:c.3317T>A | XP_005266487.1:p.Val1106Asp | |
| XM_005266431.4:c.3281T>A | XP_005266488.1:p.Val1094Asp | |
| XM_006719837.3:c.3221T>A | XP_006719900.1:p.Val1074Asp | |
| XM_011535117.3:c.3221T>A | XP_011533419.1:p.Val1074Asp | |
| XM_017020627.1:c.3221T>A | XP_016876116.1:p.Val1074Asp | |
| NM_000053.4:c.3317T>A MANE Select | NP_000044.2:p.Val1106Asp | |
| NM_001005918.3:c.2696T>A | NP_001005918.1:p.Val899Asp | |
| NM_001330579.2:c.3065T>A | NP_001317508.1:p.Val1022Asp | |
| NM_001243182.2:c.2984T>A | NP_001230111.1:p.Val995Asp | |
| NM_001330578.2:c.3083T>A | NP_001317507.1:p.Val1028Asp |