Linked Data
ClinVar Variation Id:
516440
ClinVar RCV Id:
RCV000613815
dbSNP Id:
rs757567812
ExAC:
18:48573308 C / G
gnomAD v2:
18-48573308-C-G
gnomAD v4:
18-51046938-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51046938C>G , CM000680.2:g.51046938C>G | GRCh38 |
| NC_000018.9:g.48573308C>G , CM000680.1:g.48573308C>G | GRCh37 |
| NC_000018.8:g.46827306C>G | NCBI36 |
| NG_013013.2:g.83899C>G , LRG_318:g.83899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-109C>G | ENSP00000465878.2:n.-109C>G | |
| ENST00000589076.6:c.-109C>G | ENSP00000466934.2:n.-109C>G | |
| ENST00000589941.2:c.-109C>G | ENSP00000465874.2:n.-109C>G | |
| ENST00000590061.2:c.-59-50C>G | ENSP00000464772.2:n.-59-50C>G | |
| ENST00000593223.2:c.-109C>G | ENSP00000466118.2:n.-109C>G | |
| ENST00000611848.2:c.-109C>G | ENSP00000478613.2:n.-109C>G | |
| ENST00000342988.8:c.-109C>G MANE Select | ENSP00000341551.3:n.-109C>G | |
| ENST00000342988.7:c.-109C>G | ENSP00000341551.3:n.-109C>G | |
| ENST00000398417.6:c.-109C>G | ENSP00000381452.1:n.-109C>G | |
| ENST00000588256.1:n.353C>G | ||
| ENST00000588860.5:c.-109C>G | ENSP00000465878.1:n.-109C>G | |
| ENST00000589076.5:c.-109C>G | ENSP00000466934.1:n.-109C>G | |
| ENST00000589941.1:c.-109C>G | ENSP00000465874.1:n.-109C>G | |
| ENST00000590061.1:c.-59-50C>G | ENSP00000464772.1:n.-59-50C>G | |
| ENST00000590722.2:c.176C>G | ENSP00000465737.1:p.Ser59Cys | |
| ENST00000591914.5:c.-109C>G | ENSP00000466941.1:n.-109C>G | |
| ENST00000592911.5:n.28-1748C>G | ||
| NM_005359.5:c.-109C>G , LRG_318t1:c.-109C>G | NP_005350.1:n.-109C>G | |
| NM_005359.6:c.-109C>G MANE Select | NP_005350.1:n.-109C>G |