Linked Data
ClinVar Variation Id:
325768
dbSNP Id:
rs574326920
gnomAD v2:
17-78075410-C-T
gnomAD v3:
17-80101611-C-T
gnomAD v4:
17-80101611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101611C>T , CM000679.2:g.80101611C>T | GRCh38 |
| NC_000017.10:g.78075410C>T , CM000679.1:g.78075410C>T | GRCh37 |
| NC_000017.9:g.75690005C>T | NCBI36 |
| NG_009822.1:g.5056C>T , LRG_673:g.5056C>T | |
| NG_029761.1:g.69980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-47C>T | ENSP00000460543.2:n.-47C>T | |
| ENST00000572080.2:c.-127C>T | ENSP00000459972.2:n.-127C>T | |
| ENST00000577106.6:c.-162C>T | ENSP00000458306.2:n.-162C>T | |
| ENST00000302262.8:c.-312C>T MANE Select | ENSP00000305692.3:n.-312C>T | |
| ENST00000390015.7:c.-127C>T | ENSP00000374665.3:n.-127C>T | |
| ENST00000570803.5:c.-47C>T | ENSP00000460543.1:n.-47C>T | |
| ENST00000574376.1:n.15C>T | ||
| ENST00000577106.5:c.-162C>T | ENSP00000458306.1:n.-162C>T | |
| NM_000152.3:c.-312C>T , LRG_673t1:c.-312C>T | NP_000143.2:n.-312C>T | |
| NM_001079803.1:c.-127C>T | NP_001073271.1:n.-127C>T | |
| NM_001079804.1:c.-47C>T | NP_001073272.1:n.-47C>T | |
| XM_005257194.3:c.-162C>T | XP_005257251.1:n.-162C>T | |
| NM_000152.4:c.-312C>T | NP_000143.2:n.-312C>T | |
| NM_001079803.2:c.-127C>T | NP_001073271.1:n.-127C>T | |
| NM_001079804.2:c.-47C>T | NP_001073272.1:n.-47C>T | |
| NR_134848.1:n.86C>T | ||
| XM_005257194.4:c.-162C>T | XP_005257251.1:n.-162C>T | |
| NM_000152.5:c.-312C>T MANE Select | NP_000143.2:n.-312C>T | |
| NM_001079803.3:c.-127C>T | NP_001073271.1:n.-127C>T | |
| NM_001079804.3:c.-47C>T | NP_001073272.1:n.-47C>T | |
| NR_134848.2:n.31C>T |