Linked Data
ClinVar Variation Id:
182828
dbSNP Id:
rs730881925
ExAC:
17:56787260 G / A
gnomAD v2:
17-56787260-G-A
gnomAD v3:
17-58709899-G-A
gnomAD v4:
17-58709899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709899G>A , CM000679.2:g.58709899G>A | GRCh38 |
| NC_000017.10:g.56787260G>A , CM000679.1:g.56787260G>A | GRCh37 |
| NC_000017.9:g.54142259G>A | NCBI36 |
| NG_023199.1:g.22298G>A , LRG_314:g.22298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.395G>A | ENSP00000464056.2:p.Arg132His | |
| ENST00000697678.1:n.648G>A | ||
| ENST00000697679.1:n.1820G>A | ||
| ENST00000697680.1:c.*1610G>A | ENSP00000513392.1:n.*1610G>A | |
| ENST00000697681.1:c.*1907G>A | ENSP00000513393.1:n.*1907G>A | |
| ENST00000697683.1:c.*1610G>A | ENSP00000513395.1:n.*1610G>A | |
| ENST00000697684.1:n.806G>A | ||
| ENST00000697685.1:c.*1443G>A | ENSP00000513396.1:n.*1443G>A | |
| ENST00000697686.1:c.395G>A | ENSP00000513397.1:p.Arg132His | |
| ENST00000697687.1:n.625G>A | ||
| ENST00000697688.1:n.792G>A | ||
| ENST00000697689.1:c.*1282G>A | ENSP00000513398.1:n.*1282G>A | |
| ENST00000697690.1:c.746G>A | ENSP00000513399.1:p.Arg249His | |
| ENST00000697691.1:c.*718G>A | ENSP00000513400.1:n.*718G>A | |
| ENST00000697692.1:c.*758G>A | ENSP00000513401.1:n.*758G>A | |
| ENST00000697694.1:c.395G>A | ENSP00000513402.1:p.Arg132His | |
| ENST00000697695.1:n.1353G>A | ||
| ENST00000337432.9:c.746G>A MANE Select | ENSP00000336701.4:p.Arg249His | |
| ENST00000337432.8:c.746G>A | ENSP00000336701.4:p.Arg249His | |
| ENST00000413590.5:c.384G>A | ||
| ENST00000461271.5:c.395G>A | ENSP00000464056.1:p.Arg132His | |
| ENST00000475762.5:c.*1449G>A | ENSP00000432421.1:n.*1449G>A | |
| ENST00000482007.5:c.*174G>A | ENSP00000433332.1:n.*174G>A | |
| ENST00000487525.5:c.*319G>A | ENSP00000431637.1:n.*319G>A | |
| ENST00000578151.1:n.81G>A | ||
| ENST00000581221.5:n.261G>A | ||
| ENST00000583539.5:c.746G>A | ENSP00000463121.1:p.Arg249His | |
| ENST00000584617.5:c.468G>A | ||
| ENST00000584804.1:c.41G>A | ENSP00000463658.1:p.Arg14His | |
| NM_058216.2:c.746G>A | NP_478123.1:p.Arg249His | |
| NR_103872.1:n.650G>A | ||
| XM_006722001.2:c.746G>A | XP_006722064.1:p.Arg249His | |
| XM_006722002.2:c.746G>A | XP_006722065.1:p.Arg249His | |
| XM_006722004.2:c.395G>A | XP_006722067.1:p.Arg132His | |
| XM_006722005.2:c.395G>A | XP_006722068.1:p.Arg132His | |
| XM_011525092.1:c.395G>A | XP_011523394.1:p.Arg132His | |
| XM_011525093.1:c.395G>A | XP_011523395.1:p.Arg132His | |
| XM_011525094.1:c.395G>A | XP_011523396.1:p.Arg132His | |
| XR_934513.1:n.964G>A | ||
| XR_934514.1:n.964G>A | ||
| XM_006722001.4:c.746G>A | XP_006722064.1:p.Arg249His | |
| XM_006722002.4:c.746G>A | XP_006722065.1:p.Arg249His | |
| XM_006722004.3:c.395G>A | XP_006722067.1:p.Arg132His | |
| XM_006722005.3:c.395G>A | XP_006722068.1:p.Arg132His | |
| XM_011525092.2:c.395G>A | XP_011523394.1:p.Arg132His | |
| XM_011525093.2:c.395G>A | XP_011523395.1:p.Arg132His | |
| XM_011525094.2:c.395G>A | XP_011523396.1:p.Arg132His | |
| XM_017024914.1:c.395G>A | XP_016880403.1:p.Arg132His | |
| XM_017024915.1:c.395G>A | XP_016880404.1:p.Arg132His | |
| XM_017024916.1:c.395G>A | XP_016880405.1:p.Arg132His | |
| XM_017024917.1:c.395G>A | XP_016880406.1:p.Arg132His | |
| XM_017024918.2:c.395G>A | XP_016880407.1:p.Arg132His | |
| XM_017024919.1:c.395G>A | XP_016880408.1:p.Arg132His | |
| XR_934513.3:n.1395G>A | ||
| XR_934514.3:n.1395G>A | ||
| NM_058216.3:c.746G>A MANE Select | NP_478123.1:p.Arg249His | |
| NR_103872.2:n.621G>A |