Linked Data
ClinVar Variation Id:
480497
dbSNP Id:
rs1413872299
gnomAD v4:
17-58703195-G-C
PubMed:
PMID:26261251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703195G>C , CM000679.2:g.58703195G>C | GRCh38 |
| NC_000017.10:g.56780556G>C , CM000679.1:g.56780556G>C | GRCh37 |
| NC_000017.9:g.54135555G>C | NCBI36 |
| NG_023199.1:g.15594G>C , LRG_314:g.15594G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.221-1G>C | ENSP00000464056.2:n.221-1G>C | |
| ENST00000697677.1:n.1653-1G>C | ||
| ENST00000697678.1:n.474-1G>C | ||
| ENST00000697679.1:n.1646-1G>C | ||
| ENST00000697680.1:c.*1436-1G>C | ENSP00000513392.1:n.*1436-1G>C | |
| ENST00000697681.1:c.*1588-1G>C | ENSP00000513393.1:n.*1588-1G>C | |
| ENST00000697683.1:c.*1436-1G>C | ENSP00000513395.1:n.*1436-1G>C | |
| ENST00000697684.1:n.632-1G>C | ||
| ENST00000697685.1:c.*1269-1G>C | ENSP00000513396.1:n.*1269-1G>C | |
| ENST00000697686.1:c.221-1G>C | ENSP00000513397.1:n.221-1G>C | |
| ENST00000697687.1:n.451-1G>C | ||
| ENST00000697688.1:n.618-1G>C | ||
| ENST00000697689.1:c.*1108-1G>C | ENSP00000513398.1:n.*1108-1G>C | |
| ENST00000697690.1:c.572-1G>C | ENSP00000513399.1:n.572-1G>C | |
| ENST00000697691.1:c.*544-1G>C | ENSP00000513400.1:n.*544-1G>C | |
| ENST00000697692.1:c.*584-1G>C | ENSP00000513401.1:n.*584-1G>C | |
| ENST00000697694.1:c.221-1G>C | ENSP00000513402.1:n.221-1G>C | |
| ENST00000697695.1:n.1179-1G>C | ||
| ENST00000337432.9:c.572-1G>C MANE Select | ENSP00000336701.4:n.572-1G>C | |
| ENST00000337432.8:c.572-1G>C | ENSP00000336701.4:n.572-1G>C | |
| ENST00000413590.5:c.210-1G>C | ||
| ENST00000425173.5:c.368-1G>C | ENSP00000407282.1:n.368-1G>C | |
| ENST00000461271.5:c.221-1G>C | ENSP00000464056.1:n.221-1G>C | |
| ENST00000475762.5:c.*1275-1G>C | ENSP00000432421.1:n.*1275-1G>C | |
| ENST00000482007.5:c.405-1G>C | ENSP00000433332.1:n.405-1G>C | |
| ENST00000487525.5:c.405-1G>C | ENSP00000431637.1:n.405-1G>C | |
| ENST00000487921.5:n.484-1G>C | ||
| ENST00000583539.5:c.572-1G>C | ENSP00000463121.1:n.572-1G>C | |
| ENST00000584617.5:c.294-1G>C | ||
| NM_058216.2:c.572-1G>C | NP_478123.1:n.572-1G>C | |
| NR_103872.1:n.476-1G>C | ||
| XM_006722001.2:c.572-1G>C | XP_006722064.1:n.572-1G>C | |
| XM_006722002.2:c.572-1G>C | XP_006722065.1:n.572-1G>C | |
| XM_006722004.2:c.221-1G>C | XP_006722067.1:n.221-1G>C | |
| XM_006722005.2:c.221-1G>C | XP_006722068.1:n.221-1G>C | |
| XM_011525092.1:c.221-1G>C | XP_011523394.1:n.221-1G>C | |
| XM_011525093.1:c.221-1G>C | XP_011523395.1:n.221-1G>C | |
| XM_011525094.1:c.221-1G>C | XP_011523396.1:n.221-1G>C | |
| XR_934513.1:n.645-1G>C | ||
| XR_934514.1:n.645-1G>C | ||
| XM_006722001.4:c.572-1G>C | XP_006722064.1:n.572-1G>C | |
| XM_006722002.4:c.572-1G>C | XP_006722065.1:n.572-1G>C | |
| XM_006722004.3:c.221-1G>C | XP_006722067.1:n.221-1G>C | |
| XM_006722005.3:c.221-1G>C | XP_006722068.1:n.221-1G>C | |
| XM_011525092.2:c.221-1G>C | XP_011523394.1:n.221-1G>C | |
| XM_011525093.2:c.221-1G>C | XP_011523395.1:n.221-1G>C | |
| XM_011525094.2:c.221-1G>C | XP_011523396.1:n.221-1G>C | |
| XM_017024914.1:c.221-1G>C | XP_016880403.1:n.221-1G>C | |
| XM_017024915.1:c.221-1G>C | XP_016880404.1:n.221-1G>C | |
| XM_017024916.1:c.221-1G>C | XP_016880405.1:n.221-1G>C | |
| XM_017024917.1:c.221-1G>C | XP_016880406.1:n.221-1G>C | |
| XM_017024918.2:c.221-1G>C | XP_016880407.1:n.221-1G>C | |
| XM_017024919.1:c.221-1G>C | XP_016880408.1:n.221-1G>C | |
| XR_934513.3:n.1076-1G>C | ||
| XR_934514.3:n.1076-1G>C | ||
| NM_058216.3:c.572-1G>C MANE Select | NP_478123.1:n.572-1G>C | |
| NR_103872.2:n.447-1G>C |