Linked Data
ClinVar Variation Id:
727086
ClinVar RCV Id:
RCV000901376
dbSNP Id:
rs542217083
ExAC:
1:8378228 C / G
gnomAD v2:
1-8378228-C-G
gnomAD v3:
1-8318168-C-G
gnomAD v4:
1-8318168-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8318168C>G , CM000663.2:g.8318168C>G | GRCh38 |
| NC_000001.10:g.8378228C>G , CM000663.1:g.8378228C>G | GRCh37 |
| NC_000001.9:g.8300815C>G | NCBI36 |
| NG_034025.1:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471889.7:c.-43C>G MANE Select | ENSP00000418096.3:n.-43C>G | |
| ENST00000471889.5:c.60C>G | ENSP00000418096.2:p.Ala20= | |
| NM_001080397.2:c.60C>G | NP_001073866.2:p.Ala20= | |
| XM_011541530.1:c.60C>G | XP_011539832.1:p.Ala20= | |
| XM_011541531.1:c.60C>G | XP_011539833.1:p.Ala20= | |
| XM_011541530.2:c.60C>G | XP_011539832.1:p.Ala20= | |
| XM_011541531.2:c.60C>G | XP_011539833.1:p.Ala20= | |
| XM_024447371.1:c.60C>G | XP_024303139.1:p.Ala20= | |
| XM_024447372.1:c.-608C>G | XP_024303140.1:n.-608C>G | |
| NM_001080397.3:c.-43C>G MANE Select | NP_001073866.3:n.-43C>G | |
| NM_001379614.1:c.-43C>G | NP_001366543.1:n.-43C>G | |
| NM_001379615.1:c.-43C>G | NP_001366544.1:n.-43C>G | |
| NM_001379616.1:c.-43C>G | NP_001366545.1:n.-43C>G | |
| NM_001379617.1:c.-135C>G | NP_001366546.1:n.-135C>G | |
| NM_001379618.1:c.-135C>G | NP_001366547.1:n.-135C>G |