Linked Data
ClinVar Variation Id:
157932
dbSNP Id:
rs372436901
ExAC:
13:52534436 T / G
gnomAD v2:
13-52534436-T-G
gnomAD v3:
13-51960300-T-G
gnomAD v4:
13-51960300-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51960300T>G , CM000675.2:g.51960300T>G | GRCh38 |
| NC_000013.10:g.52534436T>G , CM000675.1:g.52534436T>G | GRCh37 |
| NC_000013.9:g.51432437T>G | NCBI36 |
| NG_008806.1:g.56195A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.1946+1537A>C | ENSP00000489512.2:n.1946+1537A>C | |
| ENST00000673864.2:c.*713A>C | ENSP00000501045.2:n.*713A>C | |
| ENST00000674147.2:c.1870-2693A>C | ENSP00000500964.2:n.1870-2693A>C | |
| ENST00000242839.10:c.1969A>C MANE Select | ENSP00000242839.5:p.Ser657Arg | |
| ENST00000344297.9:c.1870-2693A>C | ENSP00000342559.5:n.1870-2693A>C | |
| ENST00000400366.6:c.1636A>C | ENSP00000383217.3:p.Ser546Arg | |
| ENST00000448424.7:c.1870-1756A>C | ENSP00000416738.3:n.1870-1756A>C | |
| ENST00000673772.1:c.1969A>C | ENSP00000501168.1:p.Ser657Arg | |
| ENST00000674147.1:c.1426-2693A>C | ENSP00000500964.1:n.1426-2693A>C | |
| ENST00000242839.8:c.1969A>C | ENSP00000242839.4:p.Ser657Arg | |
| ENST00000344297.8:c.1870-2693A>C | ENSP00000342559.5:n.1870-2693A>C | |
| ENST00000400366.5:c.1636A>C | ENSP00000383217.3:p.Ser546Arg | |
| ENST00000400370.8:c.1286-10139A>C | ENSP00000383221.3:n.1286-10139A>C | |
| ENST00000418097.7:c.1969A>C | ENSP00000393343.2:p.Ser657Arg | |
| ENST00000448424.6:c.1969A>C | ENSP00000416738.2:p.Ser657Arg | |
| ENST00000482841.6:n.1665-1756A>C | ||
| ENST00000634296.1:c.82+1537A>C | ||
| ENST00000634308.1:c.1969A>C | ENSP00000489234.1:p.Ser657Arg | |
| ENST00000634620.1:n.461A>C | ||
| ENST00000634844.1:c.1969A>C | ENSP00000489398.1:p.Ser657Arg | |
| ENST00000635406.1:n.212-13822A>C | ||
| NM_000053.3:c.1969A>C | NP_000044.2:p.Ser657Arg | |
| NM_001005918.2:c.1870-2693A>C | NP_001005918.1:n.1870-2693A>C | |
| NM_001243182.1:c.1636A>C | NP_001230111.1:p.Ser546Arg | |
| XM_005266423.2:c.1873A>C | XP_005266480.1:p.Ser625Arg | |
| XM_005266424.3:c.1873A>C | XP_005266481.1:p.Ser625Arg | |
| XM_005266427.2:c.1969A>C | XP_005266484.1:p.Ser657Arg | |
| XM_005266428.1:c.1870-1756A>C | XP_005266485.1:n.1870-1756A>C | |
| XM_005266430.3:c.1969A>C | XP_005266487.1:p.Ser657Arg | |
| XM_005266431.2:c.1933A>C | XP_005266488.1:p.Ser645Arg | |
| XM_005266432.2:c.1870-2693A>C | XP_005266489.1:n.1870-2693A>C | |
| XM_006719837.2:c.1873A>C | XP_006719900.1:p.Ser625Arg | |
| XM_006719838.1:c.-64+1537A>C | XP_006719901.1:n.-64+1537A>C | |
| XM_006719839.1:c.-64+1537A>C | XP_006719902.1:n.-64+1537A>C | |
| XM_011535117.1:c.1873A>C | XP_011533419.1:p.Ser625Arg | |
| XM_011535118.1:c.1969A>C | XP_011533420.1:p.Ser657Arg | |
| XM_011535119.1:c.1969A>C | XP_011533421.1:p.Ser657Arg | |
| XM_011535120.1:c.1708-1756A>C | XP_011533422.1:n.1708-1756A>C | |
| XM_011535121.1:c.1969A>C | XP_011533423.1:p.Ser657Arg | |
| XM_011535122.1:c.637A>C | XP_011533424.1:p.Ser213Arg | |
| XR_941601.1:n.2188A>C | ||
| XR_941602.1:n.2188A>C | ||
| XR_941603.1:n.2188A>C | ||
| XR_941604.1:n.2188A>C | ||
| NM_001330578.1:c.1969A>C | NP_001317507.1:p.Ser657Arg | |
| NM_001330579.1:c.1870-1756A>C | NP_001317508.1:n.1870-1756A>C | |
| XM_005266424.4:c.1873A>C | XP_005266481.1:p.Ser625Arg | |
| XM_005266430.4:c.1969A>C | XP_005266487.1:p.Ser657Arg | |
| XM_005266431.4:c.1933A>C | XP_005266488.1:p.Ser645Arg | |
| XM_006719837.3:c.1873A>C | XP_006719900.1:p.Ser625Arg | |
| XM_011535117.3:c.1873A>C | XP_011533419.1:p.Ser625Arg | |
| XM_017020627.1:c.1873A>C | XP_016876116.1:p.Ser625Arg | |
| NM_000053.4:c.1969A>C MANE Select | NP_000044.2:p.Ser657Arg | |
| NM_001005918.3:c.1870-2693A>C | NP_001005918.1:n.1870-2693A>C | |
| NM_001330579.2:c.1870-1756A>C | NP_001317508.1:n.1870-1756A>C | |
| NM_001243182.2:c.1636A>C | NP_001230111.1:p.Ser546Arg | |
| NM_001330578.2:c.1969A>C | NP_001317507.1:p.Ser657Arg |