Linked Data
ClinVar Variation Id:
285956
dbSNP Id:
rs758242849
ExAC:
21:47422230 G / A
gnomAD v2:
21-47422230-G-A
gnomAD v3:
21-46002316-G-A
gnomAD v4:
21-46002316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002316G>A , CM000683.2:g.46002316G>A | GRCh38 |
| NC_000021.8:g.47422230G>A , CM000683.1:g.47422230G>A | GRCh37 |
| NC_000021.7:g.46246658G>A | NCBI36 |
| NG_008674.1:g.25568G>A , LRG_475:g.25568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.564G>A | ||
| ENST00000612273.2:c.291G>A | ||
| ENST00000682634.1:c.291G>A | ||
| ENST00000361866.8:c.2165G>A MANE Select | ENSP00000355180.3:p.Arg722His | |
| ENST00000361866.7:c.2165G>A | ENSP00000355180.3:p.Arg722His | |
| ENST00000463060.5:n.564G>A | ||
| ENST00000498614.5:n.399G>A | ||
| ENST00000612273.1:c.2159G>A | ENSP00000483630.1:p.Arg720His | |
| NM_001848.2:c.2165G>A , LRG_475t1:c.2165G>A | NP_001839.2:p.Arg722His | |
| NM_001848.3:c.2165G>A MANE Select | NP_001839.2:p.Arg722His |