Linked Data
ClinVar Variation Id:
2047618
ClinVar RCV Id:
RCV002926898
dbSNP Id:
rs147846074
ExAC:
21:45709626 C / T
gnomAD v2:
21-45709626-C-T
gnomAD v3:
21-44289743-C-T
gnomAD v4:
21-44289743-C-T
MyVariant Identifiers:
chr21:g.45709626C>T (hg19)
chr21:g.45709626_45709629delinsTGCA (hg19)
chr21:g.44289743C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289743C>T , CM000683.2:g.44289743C>T | GRCh38 |
| NC_000021.8:g.45709626C>T , CM000683.1:g.45709626C>T | GRCh37 |
| NC_000021.7:g.44534054C>T | NCBI36 |
| NG_009556.1:g.8864C>T , LRG_18:g.8864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.739C>T MANE Select | ENSP00000291582.5:p.Arg247Cys | |
| ENST00000291582.5:c.739C>T | ENSP00000291582.5:p.Arg247Cys | |
| ENST00000527919.5:n.1472C>T | ||
| ENST00000530812.5:n.2489C>T | ||
| NM_000383.3:c.739C>T | NP_000374.1:p.Arg247Cys | |
| XM_011529551.1:c.739C>T | XP_011527853.1:p.Arg247Cys | |
| NM_000383.4:c.739C>T MANE Select | NP_000374.1:p.Arg247Cys |