Linked Data
ClinVar Variation Id:
471427
dbSNP Id:
rs587782459
ExAC:
17:56811476 C / T
gnomAD v2:
17-56811476-C-T
gnomAD v4:
17-58734115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734115C>T , CM000679.2:g.58734115C>T | GRCh38 |
| NC_000017.10:g.56811476C>T , CM000679.1:g.56811476C>T | GRCh37 |
| NC_000017.9:g.54166475C>T | NCBI36 |
| NG_023199.1:g.46514C>T , LRG_314:g.46514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1556C>T | ENSP00000464056.2:n.*1556C>T | |
| ENST00000697680.1:c.*1991-3C>T | ENSP00000513392.1:n.*1991-3C>T | |
| ENST00000697681.1:c.*2188-3C>T | ENSP00000513393.1:n.*2188-3C>T | |
| ENST00000697683.1:c.*1963-3C>T | ENSP00000513395.1:n.*1963-3C>T | |
| ENST00000697685.1:c.*1724-3C>T | ENSP00000513396.1:n.*1724-3C>T | |
| ENST00000697686.1:c.798-3C>T | ENSP00000513397.1:n.798-3C>T | |
| ENST00000697689.1:c.*1441-3C>T | ENSP00000513398.1:n.*1441-3C>T | |
| ENST00000697690.1:c.905-3C>T | ENSP00000513399.1:n.905-3C>T | |
| ENST00000697691.1:c.*999-3C>T | ENSP00000513400.1:n.*999-3C>T | |
| ENST00000697692.1:c.*1039-3C>T | ENSP00000513401.1:n.*1039-3C>T | |
| ENST00000697694.1:c.676-3C>T | ENSP00000513402.1:n.676-3C>T | |
| ENST00000697695.1:n.1634-3C>T | ||
| ENST00000337432.9:c.1027-3C>T MANE Select | ENSP00000336701.4:n.1027-3C>T | |
| ENST00000337432.8:c.1027-3C>T | ENSP00000336701.4:n.1027-3C>T | |
| ENST00000413590.5:c.668-3C>T | ||
| ENST00000461706.1:n.214-3C>T | ||
| ENST00000475762.5:c.*1663-3C>T | ENSP00000432421.1:n.*1663-3C>T | |
| ENST00000482007.5:c.*455-3C>T | ENSP00000433332.1:n.*455-3C>T | |
| ENST00000487525.5:c.*603-3C>T | ENSP00000431637.1:n.*603-3C>T | |
| ENST00000578151.1:n.240-3C>T | ||
| ENST00000581221.5:n.542-3C>T | ||
| ENST00000584804.1:c.261-3C>T | ENSP00000463658.1:n.261-3C>T | |
| NM_058216.2:c.1027-3C>T | NP_478123.1:n.1027-3C>T | |
| NR_103872.1:n.931-3C>T | ||
| XM_006722001.2:c.1030-3C>T | XP_006722064.1:n.1030-3C>T | |
| XM_006722002.2:c.966-3C>T | XP_006722065.1:n.966-3C>T | |
| XM_006722004.2:c.679-3C>T | XP_006722067.1:n.679-3C>T | |
| XM_006722005.2:c.679-3C>T | XP_006722068.1:n.679-3C>T | |
| XM_011525092.1:c.679-3C>T | XP_011523394.1:n.679-3C>T | |
| XM_011525093.1:c.679-3C>T | XP_011523395.1:n.679-3C>T | |
| XM_011525094.1:c.679-3C>T | XP_011523396.1:n.679-3C>T | |
| XR_934513.1:n.1245-3C>T | ||
| XR_934514.1:n.1248-3C>T | ||
| XR_934886.1:n.149+3956G>A | ||
| XM_006722001.4:c.1030-3C>T | XP_006722064.1:n.1030-3C>T | |
| XM_006722002.4:c.966-3C>T | XP_006722065.1:n.966-3C>T | |
| XM_006722004.3:c.679-3C>T | XP_006722067.1:n.679-3C>T | |
| XM_006722005.3:c.679-3C>T | XP_006722068.1:n.679-3C>T | |
| XM_011525092.2:c.679-3C>T | XP_011523394.1:n.679-3C>T | |
| XM_011525093.2:c.679-3C>T | XP_011523395.1:n.679-3C>T | |
| XM_011525094.2:c.679-3C>T | XP_011523396.1:n.679-3C>T | |
| XM_017024914.1:c.676-3C>T | XP_016880403.1:n.676-3C>T | |
| XM_017024915.1:c.676-3C>T | XP_016880404.1:n.676-3C>T | |
| XM_017024916.1:c.676-3C>T | XP_016880405.1:n.676-3C>T | |
| XM_017024917.1:c.676-3C>T | XP_016880406.1:n.676-3C>T | |
| XM_017024918.2:c.676-3C>T | XP_016880407.1:n.676-3C>T | |
| XM_017024919.1:c.615-3C>T | XP_016880408.1:n.615-3C>T | |
| XR_934513.3:n.1676-3C>T | ||
| XR_934514.3:n.1679-3C>T | ||
| XR_934886.2:n.149+3956G>A | ||
| NM_058216.3:c.1027-3C>T MANE Select | NP_478123.1:n.1027-3C>T | |
| NR_103872.2:n.902-3C>T |