Linked Data
ClinVar Variation Id:
340105
ClinVar RCV Id:
RCV000308424
dbSNP Id:
rs569866289
gnomAD v3:
21-43172382-T-C
gnomAD v4:
21-43172382-T-C
MyVariant Identifiers:
chr21:g.43172382T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172382T>C , CM000683.2:g.43172382T>C | GRCh38 |
| NG_009823.1:g.8352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.*102T>C MANE Select | ENSP00000291554.2:n.*102T>C | |
| ENST00000398132.1:c.*102T>C | ENSP00000381200.1:n.*102T>C | |
| ENST00000468016.1:n.725T>C | ||
| ENST00000482775.1:n.705T>C | ||
| NM_000394.3:c.*102T>C | NP_000385.1:n.*102T>C | |
| XM_005261093.2:c.*102T>C | XP_005261150.1:n.*102T>C | |
| NM_001363766.1:c.*102T>C | NP_001350695.1:n.*102T>C | |
| NM_000394.4:c.*102T>C MANE Select | NP_000385.1:n.*102T>C |