Linked Data
ClinVar Variation Id:
324902
ClinVar RCV Id:
RCV001564298
dbSNP Id:
rs115615437
gnomAD v2:
17-70117364-G-A
gnomAD v3:
17-72121223-G-A
gnomAD v4:
17-72121223-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72121223G>A , CM000679.2:g.72121223G>A | GRCh38 |
| NC_000017.10:g.70117364G>A , CM000679.1:g.70117364G>A | GRCh37 |
| NC_000017.9:g.67628959G>A | NCBI36 |
| NG_012490.1:g.5204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.-169G>A MANE Select | ENSP00000245479.2:n.-169G>A | |
| ENST00000245479.2:c.-169G>A | ENSP00000245479.2:n.-169G>A | |
| NM_000346.3:c.-169G>A | NP_000337.1:n.-169G>A | |
| NM_000346.4:c.-169G>A MANE Select | NP_000337.1:n.-169G>A |