Linked Data
ClinVar Variation Id:
321388
ClinVar RCV Id:
RCV000381829
dbSNP Id:
rs886052495
gnomAD v2:
16-89984525-G-A
gnomAD v3:
16-89918117-G-A
gnomAD v4:
16-89918117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918117G>A , CM000678.2:g.89918117G>A | GRCh38 |
| NC_000016.9:g.89984525G>A , CM000678.1:g.89984525G>A | GRCh37 |
| NC_000016.8:g.88512026G>A | NCBI36 |
| NG_012026.1:g.5239G>A | |
| NG_027810.1:g.1109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-409+70G>A | ENSP00000492011.1:n.-409+70G>A | |
| ENST00000555147.1:c.-1142G>A | ENSP00000451605.1:n.-1142G>A | |
| ENST00000555427.1:c.-409+70G>A | ENSP00000451760.1:n.-409+70G>A | |
| NM_002386.3:c.-1142G>A | NP_002377.4:n.-1142G>A |