Linked Data
ClinVar Variation Id:
323288
ClinVar RCV Id:
RCV000317108
dbSNP Id:
rs538885425
gnomAD v2:
17-40688147-G-A
gnomAD v3:
17-42536129-G-A
gnomAD v4:
17-42536129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536129G>A , CM000679.2:g.42536129G>A | GRCh38 |
| NC_000017.10:g.40688147G>A , CM000679.1:g.40688147G>A | GRCh37 |
| NC_000017.9:g.37941673G>A | NCBI36 |
| NG_011552.1:g.5197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000263.3:c.-144G>A | NP_000254.2:n.-144G>A | |
| XM_024450771.1:c.-144G>A | XP_024306539.1:n.-144G>A |