Linked Data
dbSNP Id:
rs781119593
gnomAD v3:
21-43169265-G-T
gnomAD v4:
21-43169265-G-T
MyVariant Identifiers:
chr21:g.43169265G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169265G>T , CM000683.2:g.43169265G>T | GRCh38 |
| NG_009823.1:g.5235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.166G>T MANE Select | ENSP00000291554.2:p.Val56Leu | |
| ENST00000482775.1:n.179G>T | ||
| NM_000394.3:c.166G>T | NP_000385.1:p.Val56Leu | |
| XR_001755073.1:n.647+1772C>A | ||
| NM_000394.4:c.166G>T MANE Select | NP_000385.1:p.Val56Leu |