Linked Data
ClinVar Variation Id:
327102
dbSNP Id:
rs886053886
gnomAD v2:
18-48556626-C-G
gnomAD v3:
18-51030256-C-G
gnomAD v4:
18-51030256-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51030256C>G , CM000680.2:g.51030256C>G | GRCh38 |
| NC_000018.9:g.48556626C>G , CM000680.1:g.48556626C>G | GRCh37 |
| NC_000018.8:g.46810624C>G | NCBI36 |
| NG_013013.2:g.67217C>G , LRG_318:g.67217C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-128+1591C>G | ENSP00000465878.2:n.-128+1591C>G | |
| ENST00000589076.6:c.-148C>G | ENSP00000466934.2:n.-148C>G | |
| ENST00000589941.2:c.-660C>G | ENSP00000465874.2:n.-660C>G | |
| ENST00000590061.2:c.-80C>G | ENSP00000464772.2:n.-80C>G | |
| ENST00000593223.2:c.-495C>G | ENSP00000466118.2:n.-495C>G | |
| ENST00000342988.8:c.-495C>G MANE Select | ENSP00000341551.3:n.-495C>G | |
| ENST00000342988.7:c.-495C>G | ENSP00000341551.3:n.-495C>G | |
| ENST00000398417.6:c.-128+512C>G | ENSP00000381452.1:n.-128+512C>G | |
| ENST00000588256.1:n.335-16664C>G | ||
| ENST00000588860.5:c.-128+1591C>G | ENSP00000465878.1:n.-128+1591C>G | |
| ENST00000589076.5:c.-148C>G | ENSP00000466934.1:n.-148C>G | |
| ENST00000590061.1:c.-80C>G | ENSP00000464772.1:n.-80C>G | |
| ENST00000590722.2:c.158-16664C>G | ENSP00000465737.1:n.158-16664C>G | |
| ENST00000591914.5:c.-495C>G | ENSP00000466941.1:n.-495C>G | |
| NM_005359.5:c.-495C>G , LRG_318t1:c.-495C>G | NP_005350.1:n.-495C>G | |
| XR_935468.2:n.224G>C | ||
| NM_005359.6:c.-495C>G MANE Select | NP_005350.1:n.-495C>G |