Linked Data
ClinVar Variation Id:
921513
ClinVar RCV Id:
RCV001180958
dbSNP Id:
rs1827490717
gnomAD v3:
9-99137998-A-C
gnomAD v4:
9-99137998-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99137998A>C , CM000671.2:g.99137998A>C | GRCh38 |
| NC_000009.11:g.101900280A>C , CM000671.1:g.101900280A>C | GRCh37 |
| NC_000009.10:g.100940101A>C | NCBI36 |
| NG_007461.1:g.37869A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.507A>C | ENSP00000449934.2:p.Glu169Asp | |
| ENST00000552573.7:c.519A>C | ENSP00000447182.3:p.Glu173Asp | |
| ENST00000548365.6:c.380-4538A>C | ENSP00000448518.2:n.380-4538A>C | |
| ENST00000549021.6:c.276A>C | ENSP00000449028.2:p.Glu92Asp | |
| ENST00000698941.1:c.519A>C | ENSP00000514048.1:p.Glu173Asp | |
| ENST00000698942.1:c.*510A>C | ENSP00000514049.1:n.*510A>C | |
| ENST00000374994.9:c.714A>C MANE Select | ENSP00000364133.4:p.Glu238Asp | |
| ENST00000374990.6:c.483A>C | ENSP00000364129.2:p.Glu161Asp | |
| ENST00000374994.8:c.714A>C | ENSP00000364133.4:p.Glu238Asp | |
| ENST00000549021.5:c.276A>C | ENSP00000449028.1:p.Glu92Asp | |
| ENST00000549766.5:c.726A>C | ENSP00000446685.1:p.Glu242Asp | |
| ENST00000550253.1:c.507A>C | ENSP00000450052.1:p.Glu169Asp | |
| ENST00000552516.5:c.726A>C | ENSP00000447297.1:p.Glu242Asp | |
| NM_001130916.1:c.483A>C | NP_001124388.1:p.Glu161Asp | |
| NM_001130916.2:c.483A>C | NP_001124388.1:p.Glu161Asp | |
| NM_001306210.1:c.726A>C | NP_001293139.1:p.Glu242Asp | |
| NM_004612.2:c.714A>C | NP_004603.1:p.Glu238Asp | |
| NM_004612.3:c.714A>C | NP_004603.1:p.Glu238Asp | |
| XM_011518948.1:c.519A>C | XP_011517250.1:p.Glu173Asp | |
| XM_011518949.1:c.507A>C | XP_011517251.1:p.Glu169Asp | |
| XM_011518950.1:c.276A>C | XP_011517252.1:p.Glu92Asp | |
| XM_011518948.2:c.519A>C | XP_011517250.1:p.Glu173Asp | |
| XM_011518949.2:c.507A>C | XP_011517251.1:p.Glu169Asp | |
| XM_011518950.2:c.276A>C | XP_011517252.1:p.Glu92Asp | |
| XM_017015063.1:c.519A>C | XP_016870552.1:p.Glu173Asp | |
| XM_024447658.1:c.507A>C | XP_024303426.1:p.Glu169Asp | |
| NM_004612.4:c.714A>C MANE Select | NP_004603.1:p.Glu238Asp | |
| NM_001130916.3:c.483A>C | NP_001124388.1:p.Glu161Asp | |
| NM_001306210.2:c.726A>C | NP_001293139.1:p.Glu242Asp |