Linked Data
ClinVar Variation Id:
290085
dbSNP Id:
rs201935658
ExAC:
21:47418063 C / A
gnomAD v2:
21-47418063-C-A
gnomAD v3:
21-45998149-C-A
gnomAD v4:
21-45998149-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45998149C>A , CM000683.2:g.45998149C>A | GRCh38 |
| NC_000021.8:g.47418063C>A , CM000683.1:g.47418063C>A | GRCh37 |
| NC_000021.7:g.46242491C>A | NCBI36 |
| NG_008674.1:g.21401C>A , LRG_475:g.21401C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.328C>A | ||
| ENST00000361866.8:c.1553C>A MANE Select | ENSP00000355180.3:p.Thr518Asn | |
| ENST00000361866.7:c.1553C>A | ENSP00000355180.3:p.Thr518Asn | |
| ENST00000612273.1:c.1553C>A | ENSP00000483630.1:p.Thr518Asn | |
| NM_001848.2:c.1553C>A , LRG_475t1:c.1553C>A | NP_001839.2:p.Thr518Asn | |
| NM_001848.3:c.1553C>A MANE Select | NP_001839.2:p.Thr518Asn |