Linked Data
ClinVar Variation Id:
241782
dbSNP Id:
rs752811386
ExAC:
17:56801482 A / G
gnomAD v2:
17-56801482-A-G
gnomAD v4:
17-58724121-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58724121A>G , CM000679.2:g.58724121A>G | GRCh38 |
| NC_000017.10:g.56801482A>G , CM000679.1:g.56801482A>G | GRCh37 |
| NC_000017.9:g.54156481A>G | NCBI36 |
| NG_023199.1:g.36520A>G , LRG_314:g.36520A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.614+21A>G | ENSP00000464056.2:n.614+21A>G | |
| ENST00000697680.1:c.*1929+21A>G | ENSP00000513392.1:n.*1929+21A>G | |
| ENST00000697681.1:c.*2126+21A>G | ENSP00000513393.1:n.*2126+21A>G | |
| ENST00000697683.1:c.*1829+21A>G | ENSP00000513395.1:n.*1829+21A>G | |
| ENST00000697684.1:n.1025+21A>G | ||
| ENST00000697685.1:c.*1662+21A>G | ENSP00000513396.1:n.*1662+21A>G | |
| ENST00000697686.1:c.614+21A>G | ENSP00000513397.1:n.614+21A>G | |
| ENST00000697687.1:n.865A>G | ||
| ENST00000697688.1:n.1032A>G | ||
| ENST00000697689.1:c.*1440+3309A>G | ENSP00000513398.1:n.*1440+3309A>G | |
| ENST00000697690.1:c.904+3309A>G | ENSP00000513399.1:n.904+3309A>G | |
| ENST00000697691.1:c.*937+21A>G | ENSP00000513400.1:n.*937+21A>G | |
| ENST00000697692.1:c.*977+21A>G | ENSP00000513401.1:n.*977+21A>G | |
| ENST00000697694.1:c.614+21A>G | ENSP00000513402.1:n.614+21A>G | |
| ENST00000697695.1:n.1572+21A>G | ||
| ENST00000337432.9:c.965+21A>G MANE Select | ENSP00000336701.4:n.965+21A>G | |
| ENST00000337432.8:c.965+21A>G | ENSP00000336701.4:n.965+21A>G | |
| ENST00000413590.5:c.603+21A>G | ||
| ENST00000475762.5:c.*1601+21A>G | ENSP00000432421.1:n.*1601+21A>G | |
| ENST00000482007.5:c.*393+21A>G | ENSP00000433332.1:n.*393+21A>G | |
| ENST00000487525.5:c.*538+21A>G | ENSP00000431637.1:n.*538+21A>G | |
| ENST00000578151.1:n.239+3309A>G | ||
| ENST00000581221.5:n.480+21A>G | ||
| ENST00000583539.5:c.965+21A>G | ENSP00000463121.1:n.965+21A>G | |
| ENST00000584617.5:c.687+21A>G | ||
| ENST00000584804.1:c.199+3309A>G | ENSP00000463658.1:n.199+3309A>G | |
| NM_058216.2:c.965+21A>G | NP_478123.1:n.965+21A>G | |
| NR_103872.1:n.869+21A>G | ||
| XM_006722001.2:c.965+21A>G | XP_006722064.1:n.965+21A>G | |
| XM_006722002.2:c.904+3309A>G | XP_006722065.1:n.904+3309A>G | |
| XM_006722004.2:c.614+21A>G | XP_006722067.1:n.614+21A>G | |
| XM_006722005.2:c.614+21A>G | XP_006722068.1:n.614+21A>G | |
| XM_011525092.1:c.614+21A>G | XP_011523394.1:n.614+21A>G | |
| XM_011525093.1:c.614+21A>G | XP_011523395.1:n.614+21A>G | |
| XM_011525094.1:c.614+21A>G | XP_011523396.1:n.614+21A>G | |
| XR_934513.1:n.1183+21A>G | ||
| XR_934514.1:n.1183+21A>G | ||
| XR_934886.1:n.454T>C | ||
| XM_006722001.4:c.965+21A>G | XP_006722064.1:n.965+21A>G | |
| XM_006722002.4:c.904+3309A>G | XP_006722065.1:n.904+3309A>G | |
| XM_006722004.3:c.614+21A>G | XP_006722067.1:n.614+21A>G | |
| XM_006722005.3:c.614+21A>G | XP_006722068.1:n.614+21A>G | |
| XM_011525092.2:c.614+21A>G | XP_011523394.1:n.614+21A>G | |
| XM_011525093.2:c.614+21A>G | XP_011523395.1:n.614+21A>G | |
| XM_011525094.2:c.614+21A>G | XP_011523396.1:n.614+21A>G | |
| XM_017024914.1:c.614+21A>G | XP_016880403.1:n.614+21A>G | |
| XM_017024915.1:c.614+21A>G | XP_016880404.1:n.614+21A>G | |
| XM_017024916.1:c.614+21A>G | XP_016880405.1:n.614+21A>G | |
| XM_017024917.1:c.614+21A>G | XP_016880406.1:n.614+21A>G | |
| XM_017024918.2:c.614+21A>G | XP_016880407.1:n.614+21A>G | |
| XM_017024919.1:c.553+3309A>G | XP_016880408.1:n.553+3309A>G | |
| XR_934513.3:n.1614+21A>G | ||
| XR_934514.3:n.1614+21A>G | ||
| XR_934886.2:n.454T>C | ||
| NM_058216.3:c.965+21A>G MANE Select | NP_478123.1:n.965+21A>G | |
| NR_103872.2:n.840+21A>G |