Linked Data
ClinVar Variation Id:
340111
ClinVar RCV Id:
RCV000301494
dbSNP Id:
rs886057110
gnomAD v3:
21-43172678-G-A
gnomAD v4:
21-43172678-G-A
MyVariant Identifiers:
chr21:g.43172678G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172678G>A , CM000683.2:g.43172678G>A | GRCh38 |
| NG_009823.1:g.8648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.*398G>A MANE Select | ENSP00000291554.2:n.*398G>A | |
| ENST00000482775.1:n.1001G>A | ||
| NM_000394.3:c.*398G>A | NP_000385.1:n.*398G>A | |
| XM_005261093.2:c.*398G>A | XP_005261150.1:n.*398G>A | |
| NM_001363766.1:c.*398G>A | NP_001350695.1:n.*398G>A | |
| NM_000394.4:c.*398G>A MANE Select | NP_000385.1:n.*398G>A |