Linked Data
ClinVar Variation Id:
325767
dbSNP Id:
rs144639114
gnomAD v2:
17-78075384-C-G
gnomAD v3:
17-80101585-C-G
gnomAD v4:
17-80101585-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101585C>G , CM000679.2:g.80101585C>G | GRCh38 |
| NC_000017.10:g.78075384C>G , CM000679.1:g.78075384C>G | GRCh37 |
| NC_000017.9:g.75689979C>G | NCBI36 |
| NG_009822.1:g.5030C>G , LRG_673:g.5030C>G | |
| NG_029761.1:g.69954C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-73C>G | ENSP00000460543.2:n.-73C>G | |
| ENST00000572080.2:c.-153C>G | ENSP00000459972.2:n.-153C>G | |
| ENST00000577106.6:c.-188C>G | ENSP00000458306.2:n.-188C>G | |
| ENST00000302262.8:c.-338C>G MANE Select | ENSP00000305692.3:n.-338C>G | |
| ENST00000570803.5:c.-73C>G | ENSP00000460543.1:n.-73C>G | |
| NM_000152.3:c.-338C>G , LRG_673t1:c.-338C>G | NP_000143.2:n.-338C>G | |
| NM_001079803.1:c.-153C>G | NP_001073271.1:n.-153C>G | |
| NM_001079804.1:c.-73C>G | NP_001073272.1:n.-73C>G | |
| XM_005257194.3:c.-188C>G | XP_005257251.1:n.-188C>G | |
| NM_000152.4:c.-338C>G | NP_000143.2:n.-338C>G | |
| NM_001079803.2:c.-153C>G | NP_001073271.1:n.-153C>G | |
| NM_001079804.2:c.-73C>G | NP_001073272.1:n.-73C>G | |
| NR_134848.1:n.60C>G | ||
| XM_005257194.4:c.-188C>G | XP_005257251.1:n.-188C>G | |
| NM_000152.5:c.-338C>G MANE Select | NP_000143.2:n.-338C>G | |
| NM_001079803.3:c.-153C>G | NP_001073271.1:n.-153C>G | |
| NM_001079804.3:c.-73C>G | NP_001073272.1:n.-73C>G | |
| NR_134848.2:n.5C>G |