Linked Data
dbSNP Id:
rs868205458
gnomAD v4:
21-43169011-G-A
MyVariant Identifiers:
chr21:g.43169011G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169011G>A , CM000683.2:g.43169011G>A | GRCh38 |
| NG_009823.1:g.4981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-89G>A MANE Select | ENSP00000291554.2:n.-89G>A | |
| NM_000394.3:c.-89G>A | NP_000385.1:n.-89G>A | |
| XR_001755073.1:n.647+2026C>T | ||
| NM_000394.4:c.-89G>A MANE Select | NP_000385.1:n.-89G>A |