Linked Data
ClinVar Variation Id:
2019002
ClinVar RCV Id:
RCV002870957
dbSNP Id:
rs2146377848
gnomAD v4:
21-44288427-G-A
MyVariant Identifiers:
chr21:g.45708310G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288427G>A , CM000683.2:g.44288427G>A | GRCh38 |
| NC_000021.8:g.45708310G>A , CM000683.1:g.45708310G>A | GRCh37 |
| NC_000021.7:g.44532738G>A | NCBI36 |
| NG_009556.1:g.7548G>A , LRG_18:g.7548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.621G>A MANE Select | ENSP00000291582.5:p.Glu207= | |
| ENST00000291582.5:c.621G>A | ENSP00000291582.5:p.Glu207= | |
| ENST00000527919.5:n.1165G>A | ||
| ENST00000530812.5:n.1173G>A | ||
| NM_000383.3:c.621G>A | NP_000374.1:p.Glu207= | |
| XM_011529551.1:c.621G>A | XP_011527853.1:p.Glu207= | |
| NM_000383.4:c.621G>A MANE Select | NP_000374.1:p.Glu207= |