Linked Data
ClinVar Variation Id:
327103
dbSNP Id:
rs886053887
gnomAD v3:
18-51030275-C-A
gnomAD v4:
18-51030275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51030275C>A , CM000680.2:g.51030275C>A | GRCh38 |
| NC_000018.9:g.48556645C>A , CM000680.1:g.48556645C>A | GRCh37 |
| NC_000018.8:g.46810643C>A | NCBI36 |
| NG_013013.2:g.67236C>A , LRG_318:g.67236C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-128+1610C>A | ENSP00000465878.2:n.-128+1610C>A | |
| ENST00000589076.6:c.-129C>A | ENSP00000466934.2:n.-129C>A | |
| ENST00000589941.2:c.-641C>A | ENSP00000465874.2:n.-641C>A | |
| ENST00000590061.2:c.-61C>A | ENSP00000464772.2:n.-61C>A | |
| ENST00000593223.2:c.-476C>A | ENSP00000466118.2:n.-476C>A | |
| ENST00000342988.8:c.-476C>A MANE Select | ENSP00000341551.3:n.-476C>A | |
| ENST00000342988.7:c.-476C>A | ENSP00000341551.3:n.-476C>A | |
| ENST00000398417.6:c.-128+531C>A | ENSP00000381452.1:n.-128+531C>A | |
| ENST00000588256.1:n.335-16645C>A | ||
| ENST00000588860.5:c.-128+1610C>A | ENSP00000465878.1:n.-128+1610C>A | |
| ENST00000589076.5:c.-129C>A | ENSP00000466934.1:n.-129C>A | |
| ENST00000590061.1:c.-61C>A | ENSP00000464772.1:n.-61C>A | |
| ENST00000590722.2:c.158-16645C>A | ENSP00000465737.1:n.158-16645C>A | |
| ENST00000591914.5:c.-476C>A | ENSP00000466941.1:n.-476C>A | |
| NM_005359.5:c.-476C>A , LRG_318t1:c.-476C>A | NP_005350.1:n.-476C>A | |
| XR_935468.2:n.205G>T | ||
| NM_005359.6:c.-476C>A MANE Select | NP_005350.1:n.-476C>A |