Linked Data
ClinVar Variation Id:
317197
ClinVar RCV Id:
RCV000368485
dbSNP Id:
rs886051495
gnomAD v2:
15-80445330-C-A
gnomAD v3:
15-80152988-C-A
gnomAD v4:
15-80152988-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152988C>A , CM000677.2:g.80152988C>A | GRCh38 |
| NC_000015.9:g.80445330C>A , CM000677.1:g.80445330C>A | GRCh37 |
| NC_000015.8:g.78232385C>A | NCBI36 |
| NG_012833.1:g.4990C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-67C>A | ENSP00000507680.1:n.-67C>A | |
| ENST00000682012.1:n.9C>A | ||
| ENST00000261755.9:c.-29-38C>A | ENSP00000261755.5:n.-29-38C>A | |
| ENST00000407106.5:c.-29-38C>A | ENSP00000385080.1:n.-29-38C>A | |
| ENST00000537726.5:n.54-38C>A | ||
| ENST00000558022.5:c.-29-38C>A | ENSP00000453152.1:n.-29-38C>A | |
| ENST00000558767.5:n.195C>A | ||
| ENST00000561369.1:n.52-38C>A | ||
| ENST00000561421.5:c.-67C>A | ENSP00000453347.1:n.-67C>A | |
| NM_000137.2:c.-67C>A | NP_000128.1:n.-67C>A | |
| XM_024449872.1:c.-29-38C>A | XP_024305640.1:n.-29-38C>A | |
| NM_001374377.1:c.-29-38C>A | NP_001361306.1:n.-29-38C>A | |
| NM_001374380.1:c.-29-38C>A | NP_001361309.1:n.-29-38C>A |