Linked Data
ClinVar Variation Id:
283242
dbSNP Id:
rs145849970
ExAC:
21:47407425 G / A
gnomAD v2:
21-47407425-G-A
gnomAD v3:
21-45987511-G-A
gnomAD v4:
21-45987511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987511G>A , CM000683.2:g.45987511G>A | GRCh38 |
| NC_000021.8:g.47407425G>A , CM000683.1:g.47407425G>A | GRCh37 |
| NC_000021.7:g.46231853G>A | NCBI36 |
| NG_008674.1:g.10763G>A , LRG_475:g.10763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.751G>A MANE Select | ENSP00000355180.3:p.Glu251Lys | |
| ENST00000361866.7:c.751G>A | ENSP00000355180.3:p.Glu251Lys | |
| ENST00000492851.1:n.403G>A | ||
| ENST00000612273.1:c.751G>A | ENSP00000483630.1:p.Glu251Lys | |
| NM_001848.2:c.751G>A , LRG_475t1:c.751G>A | NP_001839.2:p.Glu251Lys | |
| NM_001848.3:c.751G>A MANE Select | NP_001839.2:p.Glu251Lys |