Linked Data
ClinVar Variation Id:
3849
dbSNP Id:
rs121907992
ExAC:
13:52511719 C / T
gnomAD v2:
13-52511719-C-T
gnomAD v3:
13-51937583-C-T
gnomAD v4:
13-51937583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937583C>T , CM000675.2:g.51937583C>T | GRCh38 |
| NC_000013.10:g.52511719C>T , CM000675.1:g.52511719C>T | GRCh37 |
| NC_000013.9:g.51409720C>T | NCBI36 |
| NG_008806.1:g.78912G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1446G>A | ENSP00000489512.2:n.*1446G>A | |
| ENST00000673864.2:c.*2540G>A | ENSP00000501045.2:n.*2540G>A | |
| ENST00000674147.2:c.3175G>A | ENSP00000500964.2:p.Gly1059Arg | |
| ENST00000242839.10:c.3796G>A MANE Select | ENSP00000242839.5:p.Gly1266Arg | |
| ENST00000344297.9:c.3175G>A | ENSP00000342559.5:p.Gly1059Arg | |
| ENST00000400366.6:c.3463G>A | ENSP00000383217.3:p.Gly1155Arg | |
| ENST00000448424.7:c.3544G>A | ENSP00000416738.3:p.Gly1182Arg | |
| ENST00000673696.1:n.1037G>A | ||
| ENST00000673772.1:c.3562G>A | ENSP00000501168.1:p.Gly1188Arg | |
| ENST00000673867.1:n.3935G>A | ||
| ENST00000673923.1:n.662G>A | ||
| ENST00000674147.1:c.2731G>A | ENSP00000500964.1:p.Gly911Arg | |
| ENST00000242839.8:c.3796G>A | ENSP00000242839.4:p.Gly1266Arg | |
| ENST00000344297.8:c.3175G>A | ENSP00000342559.5:p.Gly1059Arg | |
| ENST00000400366.5:c.3463G>A | ENSP00000383217.3:p.Gly1155Arg | |
| ENST00000400370.8:c.2506G>A | ENSP00000383221.3:p.Gly836Arg | |
| ENST00000418097.7:c.3601G>A | ENSP00000393343.2:p.Gly1201Arg | |
| ENST00000448424.6:c.3562G>A | ENSP00000416738.2:p.Gly1188Arg | |
| ENST00000634296.1:c.1574G>A | ||
| ENST00000634308.1:c.*897G>A | ENSP00000489234.1:n.*897G>A | |
| ENST00000634620.1:n.4540G>A | ||
| ENST00000634810.1:n.3141G>A | ||
| ENST00000634844.1:c.3652G>A | ENSP00000489398.1:p.Gly1218Arg | |
| NM_000053.3:c.3796G>A | NP_000044.2:p.Gly1266Arg | |
| NM_001005918.2:c.3175G>A | NP_001005918.1:p.Gly1059Arg | |
| NM_001243182.1:c.3463G>A | NP_001230111.1:p.Gly1155Arg | |
| XM_005266423.2:c.3700G>A | XP_005266480.1:p.Gly1234Arg | |
| XM_005266424.3:c.3700G>A | XP_005266481.1:p.Gly1234Arg | |
| XM_005266427.2:c.3562G>A | XP_005266484.1:p.Gly1188Arg | |
| XM_005266428.1:c.3544G>A | XP_005266485.1:p.Gly1182Arg | |
| XM_005266430.3:c.3796G>A | XP_005266487.1:p.Gly1266Arg | |
| XM_005266431.2:c.3760G>A | XP_005266488.1:p.Gly1254Arg | |
| XM_005266432.2:c.3310G>A | XP_005266489.1:p.Gly1104Arg | |
| XM_006719837.2:c.3700G>A | XP_006719900.1:p.Gly1234Arg | |
| XM_006719838.1:c.1612G>A | XP_006719901.1:p.Gly538Arg | |
| XM_006719839.1:c.1429G>A | XP_006719902.1:p.Gly477Arg | |
| XM_011535117.1:c.3700G>A | XP_011533419.1:p.Gly1234Arg | |
| XM_011535118.1:c.3661G>A | XP_011533420.1:p.Gly1221Arg | |
| XM_011535119.1:c.3613G>A | XP_011533421.1:p.Gly1205Arg | |
| XM_011535120.1:c.3382G>A | XP_011533422.1:p.Gly1128Arg | |
| XM_011535121.1:c.3283G>A | XP_011533423.1:p.Gly1095Arg | |
| XM_011535122.1:c.2464G>A | XP_011533424.1:p.Gly822Arg | |
| XR_941601.1:n.4015G>A | ||
| XR_941602.1:n.4015G>A | ||
| XR_941603.1:n.4015G>A | ||
| XR_941604.1:n.4015G>A | ||
| NM_001330578.1:c.3562G>A | NP_001317507.1:p.Gly1188Arg | |
| NM_001330579.1:c.3544G>A | NP_001317508.1:p.Gly1182Arg | |
| XM_005266424.4:c.3700G>A | XP_005266481.1:p.Gly1234Arg | |
| XM_005266430.4:c.3796G>A | XP_005266487.1:p.Gly1266Arg | |
| XM_005266431.4:c.3760G>A | XP_005266488.1:p.Gly1254Arg | |
| XM_006719837.3:c.3700G>A | XP_006719900.1:p.Gly1234Arg | |
| XM_011535117.3:c.3700G>A | XP_011533419.1:p.Gly1234Arg | |
| XM_017020627.1:c.3700G>A | XP_016876116.1:p.Gly1234Arg | |
| NM_000053.4:c.3796G>A MANE Select | NP_000044.2:p.Gly1266Arg | |
| NM_001005918.3:c.3175G>A | NP_001005918.1:p.Gly1059Arg | |
| NM_001330579.2:c.3544G>A | NP_001317508.1:p.Gly1182Arg | |
| NM_001243182.2:c.3463G>A | NP_001230111.1:p.Gly1155Arg | |
| NM_001330578.2:c.3562G>A | NP_001317507.1:p.Gly1188Arg |