Linked Data
ClinVar Variation Id:
16957
dbSNP Id:
rs74315439
MyVariant Identifiers:
chr21:g.43172104C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172104C>T , CM000683.2:g.43172104C>T | GRCh38 |
| NG_009823.1:g.8074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.346C>T MANE Select | ENSP00000291554.2:p.Arg116Cys | |
| ENST00000398132.1:c.235C>T | ENSP00000381200.1:p.Arg79Cys | |
| ENST00000398133.5:c.286C>T | ENSP00000381201.1:p.Arg96Cys | |
| ENST00000468016.1:n.447C>T | ||
| ENST00000482775.1:n.427C>T | ||
| NM_000394.3:c.346C>T | NP_000385.1:p.Arg116Cys | |
| XM_005261093.2:c.235C>T | XP_005261150.1:p.Arg79Cys | |
| NM_001363766.1:c.235C>T | NP_001350695.1:p.Arg79Cys | |
| NM_000394.4:c.346C>T MANE Select | NP_000385.1:p.Arg116Cys |