Linked Data
ClinVar Variation Id:
216132
dbSNP Id:
rs779582317
ExAC:
17:56801399 A / C
gnomAD v2:
17-56801399-A-C
gnomAD v3:
17-58724038-A-C
gnomAD v4:
17-58724038-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58724038A>C , CM000679.2:g.58724038A>C | GRCh38 |
| NC_000017.10:g.56801399A>C , CM000679.1:g.56801399A>C | GRCh37 |
| NC_000017.9:g.54156398A>C | NCBI36 |
| NG_023199.1:g.36437A>C , LRG_314:g.36437A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.554-2A>C | ENSP00000464056.2:n.554-2A>C | |
| ENST00000697680.1:c.*1869-2A>C | ENSP00000513392.1:n.*1869-2A>C | |
| ENST00000697681.1:c.*2066-2A>C | ENSP00000513393.1:n.*2066-2A>C | |
| ENST00000697683.1:c.*1769-2A>C | ENSP00000513395.1:n.*1769-2A>C | |
| ENST00000697684.1:n.965-2A>C | ||
| ENST00000697685.1:c.*1602-2A>C | ENSP00000513396.1:n.*1602-2A>C | |
| ENST00000697686.1:c.554-2A>C | ENSP00000513397.1:n.554-2A>C | |
| ENST00000697687.1:n.784-2A>C | ||
| ENST00000697688.1:n.951-2A>C | ||
| ENST00000697689.1:c.*1440+3226A>C | ENSP00000513398.1:n.*1440+3226A>C | |
| ENST00000697690.1:c.904+3226A>C | ENSP00000513399.1:n.904+3226A>C | |
| ENST00000697691.1:c.*877-2A>C | ENSP00000513400.1:n.*877-2A>C | |
| ENST00000697692.1:c.*917-2A>C | ENSP00000513401.1:n.*917-2A>C | |
| ENST00000697694.1:c.554-2A>C | ENSP00000513402.1:n.554-2A>C | |
| ENST00000697695.1:n.1512-2A>C | ||
| ENST00000337432.9:c.905-2A>C MANE Select | ENSP00000336701.4:n.905-2A>C | |
| ENST00000337432.8:c.905-2A>C | ENSP00000336701.4:n.905-2A>C | |
| ENST00000413590.5:c.543-2A>C | ||
| ENST00000475762.5:c.*1541-2A>C | ENSP00000432421.1:n.*1541-2A>C | |
| ENST00000482007.5:c.*333-2A>C | ENSP00000433332.1:n.*333-2A>C | |
| ENST00000487525.5:c.*478-2A>C | ENSP00000431637.1:n.*478-2A>C | |
| ENST00000578151.1:n.239+3226A>C | ||
| ENST00000581221.5:n.420-2A>C | ||
| ENST00000583539.5:c.905-2A>C | ENSP00000463121.1:n.905-2A>C | |
| ENST00000584617.5:c.627-2A>C | ||
| ENST00000584804.1:c.199+3226A>C | ENSP00000463658.1:n.199+3226A>C | |
| NM_058216.2:c.905-2A>C | NP_478123.1:n.905-2A>C | |
| NR_103872.1:n.809-2A>C | ||
| XM_006722001.2:c.905-2A>C | XP_006722064.1:n.905-2A>C | |
| XM_006722002.2:c.904+3226A>C | XP_006722065.1:n.904+3226A>C | |
| XM_006722004.2:c.554-2A>C | XP_006722067.1:n.554-2A>C | |
| XM_006722005.2:c.554-2A>C | XP_006722068.1:n.554-2A>C | |
| XM_011525092.1:c.554-2A>C | XP_011523394.1:n.554-2A>C | |
| XM_011525093.1:c.554-2A>C | XP_011523395.1:n.554-2A>C | |
| XM_011525094.1:c.554-2A>C | XP_011523396.1:n.554-2A>C | |
| XR_934513.1:n.1123-2A>C | ||
| XR_934514.1:n.1123-2A>C | ||
| XM_006722001.4:c.905-2A>C | XP_006722064.1:n.905-2A>C | |
| XM_006722002.4:c.904+3226A>C | XP_006722065.1:n.904+3226A>C | |
| XM_006722004.3:c.554-2A>C | XP_006722067.1:n.554-2A>C | |
| XM_006722005.3:c.554-2A>C | XP_006722068.1:n.554-2A>C | |
| XM_011525092.2:c.554-2A>C | XP_011523394.1:n.554-2A>C | |
| XM_011525093.2:c.554-2A>C | XP_011523395.1:n.554-2A>C | |
| XM_011525094.2:c.554-2A>C | XP_011523396.1:n.554-2A>C | |
| XM_017024914.1:c.554-2A>C | XP_016880403.1:n.554-2A>C | |
| XM_017024915.1:c.554-2A>C | XP_016880404.1:n.554-2A>C | |
| XM_017024916.1:c.554-2A>C | XP_016880405.1:n.554-2A>C | |
| XM_017024917.1:c.554-2A>C | XP_016880406.1:n.554-2A>C | |
| XM_017024918.2:c.554-2A>C | XP_016880407.1:n.554-2A>C | |
| XM_017024919.1:c.553+3226A>C | XP_016880408.1:n.553+3226A>C | |
| XR_934513.3:n.1554-2A>C | ||
| XR_934514.3:n.1554-2A>C | ||
| NM_058216.3:c.905-2A>C MANE Select | NP_478123.1:n.905-2A>C | |
| NR_103872.2:n.780-2A>C |