Linked Data
ClinVar Variation Id:
16960
dbSNP Id:
rs121912973
MyVariant Identifiers:
chr21:g.43172105G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172105G>A , CM000683.2:g.43172105G>A | GRCh38 |
| NG_009823.1:g.8075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.347G>A MANE Select | ENSP00000291554.2:p.Arg116His | |
| ENST00000398132.1:c.236G>A | ENSP00000381200.1:p.Arg79His | |
| ENST00000398133.5:c.287G>A | ENSP00000381201.1:p.Arg96His | |
| ENST00000468016.1:n.448G>A | ||
| ENST00000482775.1:n.428G>A | ||
| NM_000394.3:c.347G>A | NP_000385.1:p.Arg116His | |
| XM_005261093.2:c.236G>A | XP_005261150.1:p.Arg79His | |
| NM_001363766.1:c.236G>A | NP_001350695.1:p.Arg79His | |
| NM_000394.4:c.347G>A MANE Select | NP_000385.1:p.Arg116His |