Linked Data
ClinVar Variation Id:
258298
dbSNP Id:
rs529770550
ExAC:
21:47423352 G / A
gnomAD v2:
21-47423352-G-A
gnomAD v3:
21-46003438-G-A
gnomAD v4:
21-46003438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003438G>A , CM000683.2:g.46003438G>A | GRCh38 |
| NC_000021.8:g.47423352G>A , CM000683.1:g.47423352G>A | GRCh37 |
| NC_000021.7:g.46247780G>A | NCBI36 |
| NG_008674.1:g.26690G>A , LRG_475:g.26690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.911G>A | ||
| ENST00000612273.2:c.638G>A | ||
| ENST00000682634.1:c.638G>A | ||
| ENST00000361866.8:c.2512G>A MANE Select | ENSP00000355180.3:p.Ala838Thr | |
| ENST00000361866.7:c.2512G>A | ENSP00000355180.3:p.Ala838Thr | |
| ENST00000486023.1:n.300G>A | ||
| ENST00000498614.5:n.746G>A | ||
| ENST00000612273.1:c.2506G>A | ENSP00000483630.1:p.Ala836Thr | |
| NM_001848.2:c.2512G>A , LRG_475t1:c.2512G>A | NP_001839.2:p.Ala838Thr | |
| NM_001848.3:c.2512G>A MANE Select | NP_001839.2:p.Ala838Thr |