Linked Data
dbSNP Id:
rs770111576
gnomAD v3:
21-43169274-T-G
gnomAD v4:
21-43169274-T-G
MyVariant Identifiers:
chr21:g.43169274T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169274T>G , CM000683.2:g.43169274T>G | GRCh38 |
| NG_009823.1:g.5244T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.175T>G MANE Select | ENSP00000291554.2:p.Ser59Ala | |
| ENST00000482775.1:n.188T>G | ||
| NM_000394.3:c.175T>G | NP_000385.1:p.Ser59Ala | |
| XR_001755073.1:n.647+1763A>C | ||
| NM_000394.4:c.175T>G MANE Select | NP_000385.1:p.Ser59Ala |