Linked Data
ClinVar Variation Id:
2174705
ClinVar RCV Id:
RCV002588087
dbSNP Id:
rs569224551
ExAC:
21:45707021 C / A
gnomAD v2:
21-45707021-C-A
gnomAD v3:
21-44287138-C-A
gnomAD v4:
21-44287138-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287138C>A , CM000683.2:g.44287138C>A | GRCh38 |
| NC_000021.8:g.45707021C>A , CM000683.1:g.45707021C>A | GRCh37 |
| NC_000021.7:g.44531449C>A | NCBI36 |
| NG_009556.1:g.6259C>A , LRG_18:g.6259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.463+5C>A MANE Select | ENSP00000291582.5:n.463+5C>A | |
| ENST00000291582.5:c.463+5C>A | ENSP00000291582.5:n.463+5C>A | |
| ENST00000527919.5:n.629C>A | ||
| ENST00000530812.5:n.637C>A | ||
| NM_000383.3:c.463+5C>A | NP_000374.1:n.463+5C>A | |
| XM_011529551.1:c.463+5C>A | XP_011527853.1:n.463+5C>A | |
| NM_000383.4:c.463+5C>A MANE Select | NP_000374.1:n.463+5C>A |