Linked Data
dbSNP Id:
rs1048771325
gnomAD v3:
13-51937581-C-A
gnomAD v4:
13-51937581-C-A
MyVariant Identifiers:
chr13:g.52511717C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937581C>A , CM000675.2:g.51937581C>A | GRCh38 |
| NC_000013.10:g.52511717C>A , CM000675.1:g.52511717C>A | GRCh37 |
| NC_000013.9:g.51409718C>A | NCBI36 |
| NG_008806.1:g.78914G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1448G>T | ENSP00000489512.2:n.*1448G>T | |
| ENST00000673864.2:c.*2542G>T | ENSP00000501045.2:n.*2542G>T | |
| ENST00000674147.2:c.3177G>T | ENSP00000500964.2:p.Gly1059= | |
| ENST00000242839.10:c.3798G>T MANE Select | ENSP00000242839.5:p.Gly1266= | |
| ENST00000344297.9:c.3177G>T | ENSP00000342559.5:p.Gly1059= | |
| ENST00000400366.6:c.3465G>T | ENSP00000383217.3:p.Gly1155= | |
| ENST00000448424.7:c.3546G>T | ENSP00000416738.3:p.Gly1182= | |
| ENST00000673696.1:n.1039G>T | ||
| ENST00000673772.1:c.3564G>T | ENSP00000501168.1:p.Gly1188= | |
| ENST00000673867.1:n.3937G>T | ||
| ENST00000673923.1:n.664G>T | ||
| ENST00000674147.1:c.2733G>T | ENSP00000500964.1:p.Gly911= | |
| ENST00000242839.8:c.3798G>T | ENSP00000242839.4:p.Gly1266= | |
| ENST00000344297.8:c.3177G>T | ENSP00000342559.5:p.Gly1059= | |
| ENST00000400366.5:c.3465G>T | ENSP00000383217.3:p.Gly1155= | |
| ENST00000400370.8:c.2508G>T | ENSP00000383221.3:p.Gly836= | |
| ENST00000418097.7:c.3603G>T | ENSP00000393343.2:p.Gly1201= | |
| ENST00000448424.6:c.3564G>T | ENSP00000416738.2:p.Gly1188= | |
| ENST00000634296.1:c.1576G>T | ||
| ENST00000634308.1:c.*899G>T | ENSP00000489234.1:n.*899G>T | |
| ENST00000634620.1:n.4542G>T | ||
| ENST00000634810.1:n.3143G>T | ||
| ENST00000634844.1:c.3654G>T | ENSP00000489398.1:p.Gly1218= | |
| NM_000053.3:c.3798G>T | NP_000044.2:p.Gly1266= | |
| NM_001005918.2:c.3177G>T | NP_001005918.1:p.Gly1059= | |
| NM_001243182.1:c.3465G>T | NP_001230111.1:p.Gly1155= | |
| XM_005266423.2:c.3702G>T | XP_005266480.1:p.Gly1234= | |
| XM_005266424.3:c.3702G>T | XP_005266481.1:p.Gly1234= | |
| XM_005266427.2:c.3564G>T | XP_005266484.1:p.Gly1188= | |
| XM_005266428.1:c.3546G>T | XP_005266485.1:p.Gly1182= | |
| XM_005266430.3:c.3798G>T | XP_005266487.1:p.Gly1266= | |
| XM_005266431.2:c.3762G>T | XP_005266488.1:p.Gly1254= | |
| XM_005266432.2:c.3312G>T | XP_005266489.1:p.Gly1104= | |
| XM_006719837.2:c.3702G>T | XP_006719900.1:p.Gly1234= | |
| XM_006719838.1:c.1614G>T | XP_006719901.1:p.Gly538= | |
| XM_006719839.1:c.1431G>T | XP_006719902.1:p.Gly477= | |
| XM_011535117.1:c.3702G>T | XP_011533419.1:p.Gly1234= | |
| XM_011535118.1:c.3663G>T | XP_011533420.1:p.Gly1221= | |
| XM_011535119.1:c.3615G>T | XP_011533421.1:p.Gly1205= | |
| XM_011535120.1:c.3384G>T | XP_011533422.1:p.Gly1128= | |
| XM_011535121.1:c.3285G>T | XP_011533423.1:p.Gly1095= | |
| XM_011535122.1:c.2466G>T | XP_011533424.1:p.Gly822= | |
| XR_941601.1:n.4017G>T | ||
| XR_941602.1:n.4017G>T | ||
| XR_941603.1:n.4017G>T | ||
| XR_941604.1:n.4017G>T | ||
| NM_001330578.1:c.3564G>T | NP_001317507.1:p.Gly1188= | |
| NM_001330579.1:c.3546G>T | NP_001317508.1:p.Gly1182= | |
| XM_005266424.4:c.3702G>T | XP_005266481.1:p.Gly1234= | |
| XM_005266430.4:c.3798G>T | XP_005266487.1:p.Gly1266= | |
| XM_005266431.4:c.3762G>T | XP_005266488.1:p.Gly1254= | |
| XM_006719837.3:c.3702G>T | XP_006719900.1:p.Gly1234= | |
| XM_011535117.3:c.3702G>T | XP_011533419.1:p.Gly1234= | |
| XM_017020627.1:c.3702G>T | XP_016876116.1:p.Gly1234= | |
| NM_000053.4:c.3798G>T MANE Select | NP_000044.2:p.Gly1266= | |
| NM_001005918.3:c.3177G>T | NP_001005918.1:p.Gly1059= | |
| NM_001330579.2:c.3546G>T | NP_001317508.1:p.Gly1182= | |
| NM_001243182.2:c.3465G>T | NP_001230111.1:p.Gly1155= | |
| NM_001330578.2:c.3564G>T | NP_001317507.1:p.Gly1188= |