Linked Data
ClinVar Variation Id:
2574040
ClinVar RCV Id:
RCV003485870
dbSNP Id:
rs777728814
gnomAD v3:
21-43169260-G-C
gnomAD v4:
21-43169260-G-C
MyVariant Identifiers:
chr21:g.43169260G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169260G>C , CM000683.2:g.43169260G>C | GRCh38 |
| NG_009823.1:g.5230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.161G>C MANE Select | ENSP00000291554.2:p.Arg54Pro | |
| ENST00000482775.1:n.174G>C | ||
| NM_000394.3:c.161G>C | NP_000385.1:p.Arg54Pro | |
| XR_001755073.1:n.647+1777C>G | ||
| NM_000394.4:c.161G>C MANE Select | NP_000385.1:p.Arg54Pro |