Linked Data
ClinVar Variation Id:
229887
dbSNP Id:
rs779834376
ExAC:
17:56801431 G / A
gnomAD v2:
17-56801431-G-A
gnomAD v3:
17-58724070-G-A
gnomAD v4:
17-58724070-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58724070G>A , CM000679.2:g.58724070G>A | GRCh38 |
| NC_000017.10:g.56801431G>A , CM000679.1:g.56801431G>A | GRCh37 |
| NC_000017.9:g.54156430G>A | NCBI36 |
| NG_023199.1:g.36469G>A , LRG_314:g.36469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.584G>A | ENSP00000464056.2:p.Arg195Gln | |
| ENST00000697680.1:c.*1899G>A | ENSP00000513392.1:n.*1899G>A | |
| ENST00000697681.1:c.*2096G>A | ENSP00000513393.1:n.*2096G>A | |
| ENST00000697683.1:c.*1799G>A | ENSP00000513395.1:n.*1799G>A | |
| ENST00000697684.1:n.995G>A | ||
| ENST00000697685.1:c.*1632G>A | ENSP00000513396.1:n.*1632G>A | |
| ENST00000697686.1:c.584G>A | ENSP00000513397.1:p.Arg195Gln | |
| ENST00000697687.1:n.814G>A | ||
| ENST00000697688.1:n.981G>A | ||
| ENST00000697689.1:c.*1440+3258G>A | ENSP00000513398.1:n.*1440+3258G>A | |
| ENST00000697690.1:c.904+3258G>A | ENSP00000513399.1:n.904+3258G>A | |
| ENST00000697691.1:c.*907G>A | ENSP00000513400.1:n.*907G>A | |
| ENST00000697692.1:c.*947G>A | ENSP00000513401.1:n.*947G>A | |
| ENST00000697694.1:c.584G>A | ENSP00000513402.1:p.Arg195Gln | |
| ENST00000697695.1:n.1542G>A | ||
| ENST00000337432.9:c.935G>A MANE Select | ENSP00000336701.4:p.Arg312Gln | |
| ENST00000337432.8:c.935G>A | ENSP00000336701.4:p.Arg312Gln | |
| ENST00000413590.5:c.573G>A | ||
| ENST00000475762.5:c.*1571G>A | ENSP00000432421.1:n.*1571G>A | |
| ENST00000482007.5:c.*363G>A | ENSP00000433332.1:n.*363G>A | |
| ENST00000487525.5:c.*508G>A | ENSP00000431637.1:n.*508G>A | |
| ENST00000578151.1:n.239+3258G>A | ||
| ENST00000581221.5:n.450G>A | ||
| ENST00000583539.5:c.935G>A | ENSP00000463121.1:p.Arg312Gln | |
| ENST00000584617.5:c.657G>A | ||
| ENST00000584804.1:c.199+3258G>A | ENSP00000463658.1:n.199+3258G>A | |
| NM_058216.2:c.935G>A | NP_478123.1:p.Arg312Gln | |
| NR_103872.1:n.839G>A | ||
| XM_006722001.2:c.935G>A | XP_006722064.1:p.Arg312Gln | |
| XM_006722002.2:c.904+3258G>A | XP_006722065.1:n.904+3258G>A | |
| XM_006722004.2:c.584G>A | XP_006722067.1:p.Arg195Gln | |
| XM_006722005.2:c.584G>A | XP_006722068.1:p.Arg195Gln | |
| XM_011525092.1:c.584G>A | XP_011523394.1:p.Arg195Gln | |
| XM_011525093.1:c.584G>A | XP_011523395.1:p.Arg195Gln | |
| XM_011525094.1:c.584G>A | XP_011523396.1:p.Arg195Gln | |
| XR_934513.1:n.1153G>A | ||
| XR_934514.1:n.1153G>A | ||
| XM_006722001.4:c.935G>A | XP_006722064.1:p.Arg312Gln | |
| XM_006722002.4:c.904+3258G>A | XP_006722065.1:n.904+3258G>A | |
| XM_006722004.3:c.584G>A | XP_006722067.1:p.Arg195Gln | |
| XM_006722005.3:c.584G>A | XP_006722068.1:p.Arg195Gln | |
| XM_011525092.2:c.584G>A | XP_011523394.1:p.Arg195Gln | |
| XM_011525093.2:c.584G>A | XP_011523395.1:p.Arg195Gln | |
| XM_011525094.2:c.584G>A | XP_011523396.1:p.Arg195Gln | |
| XM_017024914.1:c.584G>A | XP_016880403.1:p.Arg195Gln | |
| XM_017024915.1:c.584G>A | XP_016880404.1:p.Arg195Gln | |
| XM_017024916.1:c.584G>A | XP_016880405.1:p.Arg195Gln | |
| XM_017024917.1:c.584G>A | XP_016880406.1:p.Arg195Gln | |
| XM_017024918.2:c.584G>A | XP_016880407.1:p.Arg195Gln | |
| XM_017024919.1:c.553+3258G>A | XP_016880408.1:n.553+3258G>A | |
| XR_934513.3:n.1584G>A | ||
| XR_934514.3:n.1584G>A | ||
| NM_058216.3:c.935G>A MANE Select | NP_478123.1:p.Arg312Gln | |
| NR_103872.2:n.810G>A |