Linked Data
ClinVar Variation Id:
484741
dbSNP Id:
rs757128712
ExAC:
17:56770150 G / A
gnomAD v2:
17-56770150-G-A
gnomAD v4:
17-58692789-G-A
PubMed:
PMID:20400964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692789G>A , CM000679.2:g.58692789G>A | GRCh38 |
| NC_000017.10:g.56770150G>A , CM000679.1:g.56770150G>A | GRCh37 |
| NC_000017.9:g.54125149G>A | NCBI36 |
| NG_023199.1:g.5188G>A , LRG_314:g.5188G>A | |
| NG_047169.1:g.4291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.-207+104G>A | ENSP00000464056.2:n.-207+104G>A | |
| ENST00000697675.1:n.217G>A | ||
| ENST00000697676.1:n.205+1G>A | ||
| ENST00000697677.1:n.204G>A | ||
| ENST00000697678.1:n.47+157G>A | ||
| ENST00000697679.1:n.197G>A | ||
| ENST00000697680.1:c.146G>A | ENSP00000513392.1:p.Gly49Asp | |
| ENST00000697681.1:c.146G>A | ENSP00000513393.1:p.Gly49Asp | |
| ENST00000697683.1:c.146G>A | ENSP00000513395.1:p.Gly49Asp | |
| ENST00000697684.1:n.205+1G>A | ||
| ENST00000697685.1:c.146G>A | ENSP00000513396.1:p.Gly49Asp | |
| ENST00000697686.1:c.-207+157G>A | ENSP00000513397.1:n.-207+157G>A | |
| ENST00000697687.1:n.191+1G>A | ||
| ENST00000697688.1:n.191+1G>A | ||
| ENST00000697689.1:c.146G>A | ENSP00000513398.1:p.Gly49Asp | |
| ENST00000697690.1:c.145+1G>A | ENSP00000513399.1:n.145+1G>A | |
| ENST00000697691.1:c.42+104G>A | ENSP00000513400.1:n.42+104G>A | |
| ENST00000697692.1:c.146G>A | ENSP00000513401.1:p.Gly49Asp | |
| ENST00000697693.1:n.59G>A | ||
| ENST00000337432.9:c.145+1G>A MANE Select | ENSP00000336701.4:n.145+1G>A | |
| ENST00000337432.8:c.145+1G>A | ENSP00000336701.4:n.145+1G>A | |
| ENST00000421782.3:c.145+1G>A | ENSP00000391450.2:n.145+1G>A | |
| ENST00000461271.5:c.-207+104G>A | ENSP00000464056.1:n.-207+104G>A | |
| ENST00000475762.5:c.146G>A | ENSP00000432421.1:p.Gly49Asp | |
| ENST00000476741.2:n.187+1G>A | ||
| ENST00000482007.5:c.145+1G>A | ENSP00000433332.1:n.145+1G>A | |
| ENST00000486827.1:c.146G>A | ENSP00000436761.1:p.Gly49Asp | |
| ENST00000487525.5:c.145+1G>A | ENSP00000431637.1:n.145+1G>A | |
| ENST00000487921.5:n.57+157G>A | ||
| ENST00000583539.5:c.145+1G>A | ENSP00000463121.1:n.145+1G>A | |
| ENST00000584617.5:c.126+1G>A | ||
| NM_002876.3:c.145+1G>A | NP_002867.1:n.145+1G>A | |
| NM_058216.2:c.145+1G>A | NP_478123.1:n.145+1G>A | |
| NR_103872.1:n.216+1G>A | ||
| NR_103873.1:n.113+104G>A | ||
| XM_006722001.2:c.145+1G>A | XP_006722064.1:n.145+1G>A | |
| XM_006722002.2:c.145+1G>A | XP_006722065.1:n.145+1G>A | |
| XM_006722004.2:c.-207+104G>A | XP_006722067.1:n.-207+104G>A | |
| XM_006722005.2:c.-207+157G>A | XP_006722068.1:n.-207+157G>A | |
| XM_011525092.1:c.-507+104G>A | XP_011523394.1:n.-507+104G>A | |
| XM_011525093.1:c.-668+104G>A | XP_011523395.1:n.-668+104G>A | |
| XR_934513.1:n.218+1G>A | ||
| XR_934514.1:n.218+1G>A | ||
| XM_006722001.4:c.145+1G>A | XP_006722064.1:n.145+1G>A | |
| XM_006722002.4:c.145+1G>A | XP_006722065.1:n.145+1G>A | |
| XM_006722004.3:c.-207+104G>A | XP_006722067.1:n.-207+104G>A | |
| XM_006722005.3:c.-207+157G>A | XP_006722068.1:n.-207+157G>A | |
| XM_011525092.2:c.-507+104G>A | XP_011523394.1:n.-507+104G>A | |
| XM_011525093.2:c.-668+104G>A | XP_011523395.1:n.-668+104G>A | |
| XM_017024914.1:c.-207+104G>A | XP_016880403.1:n.-207+104G>A | |
| XM_017024916.1:c.-507+104G>A | XP_016880405.1:n.-507+104G>A | |
| XM_017024917.1:c.-207+157G>A | XP_016880406.1:n.-207+157G>A | |
| XM_017024918.2:c.-377G>A | XP_016880407.1:n.-377G>A | |
| XM_017024919.1:c.-668+104G>A | XP_016880408.1:n.-668+104G>A | |
| XR_934513.3:n.649+1G>A | ||
| XR_934514.3:n.649+1G>A | ||
| NM_058216.3:c.145+1G>A MANE Select | NP_478123.1:n.145+1G>A | |
| NR_103872.2:n.187+1G>A | ||
| NM_002876.4:c.145+1G>A | NP_002867.1:n.145+1G>A |