Linked Data
ClinVar Variation Id:
1126465
ClinVar RCV Id:
RCV001458514
dbSNP Id:
rs1215843572
gnomAD v4:
13-51937361-G-A
MyVariant Identifiers:
chr13:g.52511497G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937361G>A , CM000675.2:g.51937361G>A | GRCh38 |
| NC_000013.10:g.52511497G>A , CM000675.1:g.52511497G>A | GRCh37 |
| NC_000013.9:g.51409498G>A | NCBI36 |
| NG_008806.1:g.79134C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1586C>T | ENSP00000489512.2:n.*1586C>T | |
| ENST00000673864.2:c.*2680C>T | ENSP00000501045.2:n.*2680C>T | |
| ENST00000674147.2:c.3315C>T | ENSP00000500964.2:p.His1105= | |
| ENST00000242839.10:c.3936C>T MANE Select | ENSP00000242839.5:p.His1312= | |
| ENST00000344297.9:c.3315C>T | ENSP00000342559.5:p.His1105= | |
| ENST00000400366.6:c.3603C>T | ENSP00000383217.3:p.His1201= | |
| ENST00000448424.7:c.3684C>T | ENSP00000416738.3:p.His1228= | |
| ENST00000673696.1:n.1259C>T | ||
| ENST00000673772.1:c.3702C>T | ENSP00000501168.1:p.His1234= | |
| ENST00000673867.1:n.4075C>T | ||
| ENST00000673923.1:n.802C>T | ||
| ENST00000674147.1:c.2871C>T | ENSP00000500964.1:p.His957= | |
| ENST00000242839.8:c.3936C>T | ENSP00000242839.4:p.His1312= | |
| ENST00000344297.8:c.3315C>T | ENSP00000342559.5:p.His1105= | |
| ENST00000400366.5:c.3603C>T | ENSP00000383217.3:p.His1201= | |
| ENST00000400370.8:c.2646C>T | ENSP00000383221.3:p.His882= | |
| ENST00000418097.7:c.3741C>T | ENSP00000393343.2:p.His1247= | |
| ENST00000448424.6:c.3702C>T | ENSP00000416738.2:p.His1234= | |
| ENST00000634296.1:c.1714C>T | ||
| ENST00000634308.1:c.*1037C>T | ENSP00000489234.1:n.*1037C>T | |
| ENST00000634620.1:n.4680C>T | ||
| ENST00000634810.1:n.3281C>T | ||
| ENST00000634844.1:c.3792C>T | ENSP00000489398.1:p.His1264= | |
| NM_000053.3:c.3936C>T | NP_000044.2:p.His1312= | |
| NM_001005918.2:c.3315C>T | NP_001005918.1:p.His1105= | |
| NM_001243182.1:c.3603C>T | NP_001230111.1:p.His1201= | |
| XM_005266423.2:c.3840C>T | XP_005266480.1:p.His1280= | |
| XM_005266424.3:c.3840C>T | XP_005266481.1:p.His1280= | |
| XM_005266427.2:c.3702C>T | XP_005266484.1:p.His1234= | |
| XM_005266428.1:c.3684C>T | XP_005266485.1:p.His1228= | |
| XM_005266430.3:c.3936C>T | XP_005266487.1:p.His1312= | |
| XM_005266431.2:c.3900C>T | XP_005266488.1:p.His1300= | |
| XM_005266432.2:c.3450C>T | XP_005266489.1:p.His1150= | |
| XM_006719837.2:c.3840C>T | XP_006719900.1:p.His1280= | |
| XM_006719838.1:c.1752C>T | XP_006719901.1:p.His584= | |
| XM_006719839.1:c.1569C>T | XP_006719902.1:p.His523= | |
| XM_011535117.1:c.3840C>T | XP_011533419.1:p.His1280= | |
| XM_011535118.1:c.3801C>T | XP_011533420.1:p.His1267= | |
| XM_011535119.1:c.3753C>T | XP_011533421.1:p.His1251= | |
| XM_011535120.1:c.3522C>T | XP_011533422.1:p.His1174= | |
| XM_011535121.1:c.3423C>T | XP_011533423.1:p.His1141= | |
| XM_011535122.1:c.2604C>T | XP_011533424.1:p.His868= | |
| XR_941601.1:n.4155C>T | ||
| XR_941602.1:n.4155C>T | ||
| XR_941603.1:n.4155C>T | ||
| XR_941604.1:n.4155C>T | ||
| NM_001330578.1:c.3702C>T | NP_001317507.1:p.His1234= | |
| NM_001330579.1:c.3684C>T | NP_001317508.1:p.His1228= | |
| XM_005266424.4:c.3840C>T | XP_005266481.1:p.His1280= | |
| XM_005266430.4:c.3936C>T | XP_005266487.1:p.His1312= | |
| XM_005266431.4:c.3900C>T | XP_005266488.1:p.His1300= | |
| XM_006719837.3:c.3840C>T | XP_006719900.1:p.His1280= | |
| XM_011535117.3:c.3840C>T | XP_011533419.1:p.His1280= | |
| XM_017020627.1:c.3840C>T | XP_016876116.1:p.His1280= | |
| NM_000053.4:c.3936C>T MANE Select | NP_000044.2:p.His1312= | |
| NM_001005918.3:c.3315C>T | NP_001005918.1:p.His1105= | |
| NM_001330579.2:c.3684C>T | NP_001317508.1:p.His1228= | |
| NM_001243182.2:c.3603C>T | NP_001230111.1:p.His1201= | |
| NM_001330578.2:c.3702C>T | NP_001317507.1:p.His1234= |