Linked Data
dbSNP Id:
rs769072627
gnomAD v4:
21-43169280-A-G
MyVariant Identifiers:
chr21:g.43169280A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169280A>G , CM000683.2:g.43169280A>G | GRCh38 |
| NG_009823.1:g.5250A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.181A>G MANE Select | ENSP00000291554.2:p.Ile61Val | |
| ENST00000482775.1:n.194A>G | ||
| NM_000394.3:c.181A>G | NP_000385.1:p.Ile61Val | |
| XR_001755073.1:n.647+1757T>C | ||
| NM_000394.4:c.181A>G MANE Select | NP_000385.1:p.Ile61Val |