Linked Data
ClinVar Variation Id:
230833
dbSNP Id:
rs754895072
ExAC:
17:56780683 A / G
gnomAD v2:
17-56780683-A-G
gnomAD v3:
17-58703322-A-G
gnomAD v4:
17-58703322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703322A>G , CM000679.2:g.58703322A>G | GRCh38 |
| NC_000017.10:g.56780683A>G , CM000679.1:g.56780683A>G | GRCh37 |
| NC_000017.9:g.54135682A>G | NCBI36 |
| NG_023199.1:g.15721A>G , LRG_314:g.15721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.347A>G | ENSP00000464056.2:p.His116Arg | |
| ENST00000697677.1:n.1779A>G | ||
| ENST00000697678.1:n.600A>G | ||
| ENST00000697679.1:n.1772A>G | ||
| ENST00000697680.1:c.*1562A>G | ENSP00000513392.1:n.*1562A>G | |
| ENST00000697681.1:c.*1714A>G | ENSP00000513393.1:n.*1714A>G | |
| ENST00000697683.1:c.*1562A>G | ENSP00000513395.1:n.*1562A>G | |
| ENST00000697684.1:n.758A>G | ||
| ENST00000697685.1:c.*1395A>G | ENSP00000513396.1:n.*1395A>G | |
| ENST00000697686.1:c.347A>G | ENSP00000513397.1:p.His116Arg | |
| ENST00000697687.1:n.577A>G | ||
| ENST00000697688.1:n.744A>G | ||
| ENST00000697689.1:c.*1234A>G | ENSP00000513398.1:n.*1234A>G | |
| ENST00000697690.1:c.698A>G | ENSP00000513399.1:p.His233Arg | |
| ENST00000697691.1:c.*670A>G | ENSP00000513400.1:n.*670A>G | |
| ENST00000697692.1:c.*710A>G | ENSP00000513401.1:n.*710A>G | |
| ENST00000697694.1:c.347A>G | ENSP00000513402.1:p.His116Arg | |
| ENST00000697695.1:n.1305A>G | ||
| ENST00000337432.9:c.698A>G MANE Select | ENSP00000336701.4:p.His233Arg | |
| ENST00000337432.8:c.698A>G | ENSP00000336701.4:p.His233Arg | |
| ENST00000413590.5:c.336A>G | ||
| ENST00000425173.5:c.494A>G | ENSP00000407282.1:p.His165Arg | |
| ENST00000461271.5:c.347A>G | ENSP00000464056.1:p.His116Arg | |
| ENST00000475762.5:c.*1401A>G | ENSP00000432421.1:n.*1401A>G | |
| ENST00000482007.5:c.*126A>G | ENSP00000433332.1:n.*126A>G | |
| ENST00000487525.5:c.*126A>G | ENSP00000431637.1:n.*126A>G | |
| ENST00000487921.5:n.610A>G | ||
| ENST00000583539.5:c.698A>G | ENSP00000463121.1:p.His233Arg | |
| ENST00000584617.5:c.420A>G | ||
| NM_058216.2:c.698A>G | NP_478123.1:p.His233Arg | |
| NR_103872.1:n.602A>G | ||
| XM_006722001.2:c.698A>G | XP_006722064.1:p.His233Arg | |
| XM_006722002.2:c.698A>G | XP_006722065.1:p.His233Arg | |
| XM_006722004.2:c.347A>G | XP_006722067.1:p.His116Arg | |
| XM_006722005.2:c.347A>G | XP_006722068.1:p.His116Arg | |
| XM_011525092.1:c.347A>G | XP_011523394.1:p.His116Arg | |
| XM_011525093.1:c.347A>G | XP_011523395.1:p.His116Arg | |
| XM_011525094.1:c.347A>G | XP_011523396.1:p.His116Arg | |
| XR_934513.1:n.771A>G | ||
| XR_934514.1:n.771A>G | ||
| XM_006722001.4:c.698A>G | XP_006722064.1:p.His233Arg | |
| XM_006722002.4:c.698A>G | XP_006722065.1:p.His233Arg | |
| XM_006722004.3:c.347A>G | XP_006722067.1:p.His116Arg | |
| XM_006722005.3:c.347A>G | XP_006722068.1:p.His116Arg | |
| XM_011525092.2:c.347A>G | XP_011523394.1:p.His116Arg | |
| XM_011525093.2:c.347A>G | XP_011523395.1:p.His116Arg | |
| XM_011525094.2:c.347A>G | XP_011523396.1:p.His116Arg | |
| XM_017024914.1:c.347A>G | XP_016880403.1:p.His116Arg | |
| XM_017024915.1:c.347A>G | XP_016880404.1:p.His116Arg | |
| XM_017024916.1:c.347A>G | XP_016880405.1:p.His116Arg | |
| XM_017024917.1:c.347A>G | XP_016880406.1:p.His116Arg | |
| XM_017024918.2:c.347A>G | XP_016880407.1:p.His116Arg | |
| XM_017024919.1:c.347A>G | XP_016880408.1:p.His116Arg | |
| XR_934513.3:n.1202A>G | ||
| XR_934514.3:n.1202A>G | ||
| NM_058216.3:c.698A>G MANE Select | NP_478123.1:p.His233Arg | |
| NR_103872.2:n.573A>G |