Linked Data
ClinVar Variation Id:
409856
dbSNP Id:
rs1060502597
gnomAD v2:
17-56787263-A-G
gnomAD v4:
17-58709902-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709902A>G , CM000679.2:g.58709902A>G | GRCh38 |
| NC_000017.10:g.56787263A>G , CM000679.1:g.56787263A>G | GRCh37 |
| NC_000017.9:g.54142262A>G | NCBI36 |
| NG_023199.1:g.22301A>G , LRG_314:g.22301A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.398A>G | ENSP00000464056.2:p.His133Arg | |
| ENST00000697678.1:n.651A>G | ||
| ENST00000697679.1:n.1823A>G | ||
| ENST00000697680.1:c.*1613A>G | ENSP00000513392.1:n.*1613A>G | |
| ENST00000697681.1:c.*1910A>G | ENSP00000513393.1:n.*1910A>G | |
| ENST00000697683.1:c.*1613A>G | ENSP00000513395.1:n.*1613A>G | |
| ENST00000697684.1:n.809A>G | ||
| ENST00000697685.1:c.*1446A>G | ENSP00000513396.1:n.*1446A>G | |
| ENST00000697686.1:c.398A>G | ENSP00000513397.1:p.His133Arg | |
| ENST00000697687.1:n.628A>G | ||
| ENST00000697688.1:n.795A>G | ||
| ENST00000697689.1:c.*1285A>G | ENSP00000513398.1:n.*1285A>G | |
| ENST00000697690.1:c.749A>G | ENSP00000513399.1:p.His250Arg | |
| ENST00000697691.1:c.*721A>G | ENSP00000513400.1:n.*721A>G | |
| ENST00000697692.1:c.*761A>G | ENSP00000513401.1:n.*761A>G | |
| ENST00000697694.1:c.398A>G | ENSP00000513402.1:p.His133Arg | |
| ENST00000697695.1:n.1356A>G | ||
| ENST00000337432.9:c.749A>G MANE Select | ENSP00000336701.4:p.His250Arg | |
| ENST00000337432.8:c.749A>G | ENSP00000336701.4:p.His250Arg | |
| ENST00000413590.5:c.387A>G | ||
| ENST00000461271.5:c.398A>G | ENSP00000464056.1:p.His133Arg | |
| ENST00000475762.5:c.*1452A>G | ENSP00000432421.1:n.*1452A>G | |
| ENST00000482007.5:c.*177A>G | ENSP00000433332.1:n.*177A>G | |
| ENST00000487525.5:c.*322A>G | ENSP00000431637.1:n.*322A>G | |
| ENST00000578151.1:n.84A>G | ||
| ENST00000581221.5:n.264A>G | ||
| ENST00000583539.5:c.749A>G | ENSP00000463121.1:p.His250Arg | |
| ENST00000584617.5:c.471A>G | ||
| ENST00000584804.1:c.44A>G | ENSP00000463658.1:p.His15Arg | |
| NM_058216.2:c.749A>G | NP_478123.1:p.His250Arg | |
| NR_103872.1:n.653A>G | ||
| XM_006722001.2:c.749A>G | XP_006722064.1:p.His250Arg | |
| XM_006722002.2:c.749A>G | XP_006722065.1:p.His250Arg | |
| XM_006722004.2:c.398A>G | XP_006722067.1:p.His133Arg | |
| XM_006722005.2:c.398A>G | XP_006722068.1:p.His133Arg | |
| XM_011525092.1:c.398A>G | XP_011523394.1:p.His133Arg | |
| XM_011525093.1:c.398A>G | XP_011523395.1:p.His133Arg | |
| XM_011525094.1:c.398A>G | XP_011523396.1:p.His133Arg | |
| XR_934513.1:n.967A>G | ||
| XR_934514.1:n.967A>G | ||
| XM_006722001.4:c.749A>G | XP_006722064.1:p.His250Arg | |
| XM_006722002.4:c.749A>G | XP_006722065.1:p.His250Arg | |
| XM_006722004.3:c.398A>G | XP_006722067.1:p.His133Arg | |
| XM_006722005.3:c.398A>G | XP_006722068.1:p.His133Arg | |
| XM_011525092.2:c.398A>G | XP_011523394.1:p.His133Arg | |
| XM_011525093.2:c.398A>G | XP_011523395.1:p.His133Arg | |
| XM_011525094.2:c.398A>G | XP_011523396.1:p.His133Arg | |
| XM_017024914.1:c.398A>G | XP_016880403.1:p.His133Arg | |
| XM_017024915.1:c.398A>G | XP_016880404.1:p.His133Arg | |
| XM_017024916.1:c.398A>G | XP_016880405.1:p.His133Arg | |
| XM_017024917.1:c.398A>G | XP_016880406.1:p.His133Arg | |
| XM_017024918.2:c.398A>G | XP_016880407.1:p.His133Arg | |
| XM_017024919.1:c.398A>G | XP_016880408.1:p.His133Arg | |
| XR_934513.3:n.1398A>G | ||
| XR_934514.3:n.1398A>G | ||
| NM_058216.3:c.749A>G MANE Select | NP_478123.1:p.His250Arg | |
| NR_103872.2:n.624A>G |