Linked Data
ClinVar Variation Id:
321394
ClinVar RCV Id:
RCV000397461
dbSNP Id:
rs3212358
gnomAD v2:
16-89984739-A-G
gnomAD v3:
16-89918331-A-G
gnomAD v4:
16-89918331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918331A>G , CM000678.2:g.89918331A>G | GRCh38 |
| NC_000016.9:g.89984739A>G , CM000678.1:g.89984739A>G | GRCh37 |
| NC_000016.8:g.88512240A>G | NCBI36 |
| NG_012026.1:g.5453A>G | |
| NG_027810.1:g.1323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-409+284A>G | ENSP00000492011.1:n.-409+284A>G | |
| ENST00000555147.1:c.-928A>G | ENSP00000451605.1:n.-928A>G | |
| ENST00000555427.1:c.-409+284A>G | ENSP00000451760.1:n.-409+284A>G | |
| NM_002386.3:c.-928A>G | NP_002377.4:n.-928A>G |