Linked Data
ClinVar Variation Id:
340099
ClinVar RCV Id:
RCV000317580
dbSNP Id:
rs886057103
MyVariant Identifiers:
chr21:g.43170596A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43170596A>C , CM000683.2:g.43170596A>C | GRCh38 |
| NG_009823.1:g.6566A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.269A>C MANE Select | ENSP00000291554.2:p.Gln90Pro | |
| ENST00000398132.1:c.158A>C | ENSP00000381200.1:p.Gln53Pro | |
| ENST00000398133.5:c.209A>C | ENSP00000381201.1:p.Gln70Pro | |
| ENST00000468016.1:n.370A>C | ||
| ENST00000482775.1:n.350A>C | ||
| NM_000394.3:c.269A>C | NP_000385.1:p.Gln90Pro | |
| XM_005261093.2:c.158A>C | XP_005261150.1:p.Gln53Pro | |
| NM_001363766.1:c.158A>C | NP_001350695.1:p.Gln53Pro | |
| XR_001755073.1:n.647+441T>G | ||
| NM_000394.4:c.269A>C MANE Select | NP_000385.1:p.Gln90Pro |