Linked Data
ClinVar Variation Id:
730695
ClinVar RCV Id:
RCV000905532
dbSNP Id:
rs376083924
ExAC:
21:45708283 C / T
gnomAD v2:
21-45708283-C-T
gnomAD v3:
21-44288400-C-T
gnomAD v4:
21-44288400-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288400C>T , CM000683.2:g.44288400C>T | GRCh38 |
| NC_000021.8:g.45708283C>T , CM000683.1:g.45708283C>T | GRCh37 |
| NC_000021.7:g.44532711C>T | NCBI36 |
| NG_009556.1:g.7521C>T , LRG_18:g.7521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.594C>T MANE Select | ENSP00000291582.5:p.Asp198= | |
| ENST00000291582.5:c.594C>T | ENSP00000291582.5:p.Asp198= | |
| ENST00000527919.5:n.1138C>T | ||
| ENST00000530812.5:n.1146C>T | ||
| NM_000383.3:c.594C>T | NP_000374.1:p.Asp198= | |
| XM_011529551.1:c.594C>T | XP_011527853.1:p.Asp198= | |
| NM_000383.4:c.594C>T MANE Select | NP_000374.1:p.Asp198= |