Linked Data
ClinVar Variation Id:
384414
dbSNP Id:
rs190152638
gnomAD v2:
17-78075606-C-T
gnomAD v3:
17-80101807-C-T
gnomAD v4:
17-80101807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101807C>T , CM000679.2:g.80101807C>T | GRCh38 |
| NC_000017.10:g.78075606C>T , CM000679.1:g.78075606C>T | GRCh37 |
| NC_000017.9:g.75690201C>T | NCBI36 |
| NG_009822.1:g.5252C>T , LRG_673:g.5252C>T | |
| NG_029761.1:g.70176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-33+182C>T | ENSP00000460543.2:n.-33+182C>T | |
| ENST00000572080.2:c.-112-4C>T | ENSP00000459972.2:n.-112-4C>T | |
| ENST00000577106.6:c.-147-4C>T | ENSP00000458306.2:n.-147-4C>T | |
| ENST00000302262.8:c.-116C>T MANE Select | ENSP00000305692.3:n.-116C>T | |
| ENST00000302262.7:c.-116C>T | ENSP00000305692.3:n.-116C>T | |
| ENST00000390015.7:c.-112-4C>T | ENSP00000374665.3:n.-112-4C>T | |
| ENST00000570803.5:c.-33+182C>T | ENSP00000460543.1:n.-33+182C>T | |
| ENST00000574376.1:n.30-4C>T | ||
| ENST00000577106.5:c.-147-4C>T | ENSP00000458306.1:n.-147-4C>T | |
| NM_000152.3:c.-116C>T , LRG_673t1:c.-116C>T | NP_000143.2:n.-116C>T | |
| NM_001079803.1:c.-112-4C>T | NP_001073271.1:n.-112-4C>T | |
| NM_001079804.1:c.-33+182C>T | NP_001073272.1:n.-33+182C>T | |
| XM_005257193.1:c.-112-4C>T | XP_005257250.1:n.-112-4C>T | |
| XM_005257194.3:c.-147-4C>T | XP_005257251.1:n.-147-4C>T | |
| NM_000152.4:c.-116C>T | NP_000143.2:n.-116C>T | |
| NM_001079803.2:c.-112-4C>T | NP_001073271.1:n.-112-4C>T | |
| NM_001079804.2:c.-33+182C>T | NP_001073272.1:n.-33+182C>T | |
| NR_134848.1:n.101-4C>T | ||
| XM_005257193.2:c.-112-4C>T | XP_005257250.1:n.-112-4C>T | |
| XM_005257194.4:c.-147-4C>T | XP_005257251.1:n.-147-4C>T | |
| NM_000152.5:c.-116C>T MANE Select | NP_000143.2:n.-116C>T | |
| NM_001079803.3:c.-112-4C>T | NP_001073271.1:n.-112-4C>T | |
| NM_001079804.3:c.-33+182C>T | NP_001073272.1:n.-33+182C>T | |
| NR_134848.2:n.46-4C>T |