Linked Data
ClinVar Variation Id:
286317
dbSNP Id:
rs373606162
ExAC:
17:78091389 C / G
gnomAD v2:
17-78091389-C-G
gnomAD v3:
17-80117590-C-G
gnomAD v4:
17-80117590-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80117590C>G , CM000679.2:g.80117590C>G | GRCh38 |
| NC_000017.10:g.78091389C>G , CM000679.1:g.78091389C>G | GRCh37 |
| NC_000017.9:g.75705984C>G | NCBI36 |
| NG_009822.1:g.21035C>G , LRG_673:g.21035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2332-10C>G | ENSP00000460543.2:n.2332-10C>G | |
| ENST00000572080.2:c.*470-10C>G | ENSP00000459972.2:n.*470-10C>G | |
| ENST00000577106.6:c.2332-10C>G | ENSP00000458306.2:n.2332-10C>G | |
| ENST00000302262.8:c.2332-10C>G MANE Select | ENSP00000305692.3:n.2332-10C>G | |
| ENST00000302262.7:c.2332-10C>G | ENSP00000305692.3:n.2332-10C>G | |
| ENST00000390015.7:c.2332-10C>G | ENSP00000374665.3:n.2332-10C>G | |
| ENST00000573556.1:n.285-10C>G | ||
| NM_000152.3:c.2332-10C>G , LRG_673t1:c.2332-10C>G | NP_000143.2:n.2332-10C>G | |
| NM_001079803.1:c.2332-10C>G | NP_001073271.1:n.2332-10C>G | |
| NM_001079804.1:c.2332-10C>G | NP_001073272.1:n.2332-10C>G | |
| XM_005257193.1:c.2332-10C>G | XP_005257250.1:n.2332-10C>G | |
| XM_005257194.3:c.2332-10C>G | XP_005257251.1:n.2332-10C>G | |
| NM_000152.4:c.2332-10C>G | NP_000143.2:n.2332-10C>G | |
| NM_001079803.2:c.2332-10C>G | NP_001073271.1:n.2332-10C>G | |
| NM_001079804.2:c.2332-10C>G | NP_001073272.1:n.2332-10C>G | |
| XM_005257193.2:c.2332-10C>G | XP_005257250.1:n.2332-10C>G | |
| XM_005257194.4:c.2332-10C>G | XP_005257251.1:n.2332-10C>G | |
| NM_000152.5:c.2332-10C>G MANE Select | NP_000143.2:n.2332-10C>G | |
| NM_001079803.3:c.2332-10C>G | NP_001073271.1:n.2332-10C>G | |
| NM_001079804.3:c.2332-10C>G | NP_001073272.1:n.2332-10C>G |