Linked Data
ClinVar Variation Id:
283178
dbSNP Id:
rs886042572
gnomAD v2:
21-47421252-C-G
gnomAD v3:
21-46001338-C-G
gnomAD v4:
21-46001338-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001338C>G , CM000683.2:g.46001338C>G | GRCh38 |
| NC_000021.8:g.47421252C>G , CM000683.1:g.47421252C>G | GRCh37 |
| NC_000021.7:g.46245680C>G | NCBI36 |
| NG_008674.1:g.24590C>G , LRG_475:g.24590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.307C>G | ||
| ENST00000612273.2:c.34C>G | ||
| ENST00000682634.1:c.34C>G | ||
| ENST00000361866.8:c.1908C>G MANE Select | ENSP00000355180.3:p.Asp636Glu | |
| ENST00000361866.7:c.1908C>G | ENSP00000355180.3:p.Asp636Glu | |
| ENST00000463060.5:n.307C>G | ||
| ENST00000498614.5:n.142C>G | ||
| ENST00000612273.1:c.1902C>G | ENSP00000483630.1:p.Asp634Glu | |
| NM_001848.2:c.1908C>G , LRG_475t1:c.1908C>G | NP_001839.2:p.Asp636Glu | |
| NM_001848.3:c.1908C>G MANE Select | NP_001839.2:p.Asp636Glu |