Linked Data
ClinVar Variation Id:
520643
dbSNP Id:
rs562898957
ExAC:
21:47422265 A / G
gnomAD v2:
21-47422265-A-G
gnomAD v3:
21-46002351-A-G
gnomAD v4:
21-46002351-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002351A>G , CM000683.2:g.46002351A>G | GRCh38 |
| NC_000021.8:g.47422265A>G , CM000683.1:g.47422265A>G | GRCh37 |
| NC_000021.7:g.46246693A>G | NCBI36 |
| NG_008674.1:g.25603A>G , LRG_475:g.25603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.599A>G | ||
| ENST00000612273.2:c.326A>G | ||
| ENST00000682634.1:c.326A>G | ||
| ENST00000361866.8:c.2200A>G MANE Select | ENSP00000355180.3:p.Thr734Ala | |
| ENST00000361866.7:c.2200A>G | ENSP00000355180.3:p.Thr734Ala | |
| ENST00000463060.5:n.599A>G | ||
| ENST00000498614.5:n.434A>G | ||
| ENST00000612273.1:c.2194A>G | ENSP00000483630.1:p.Thr732Ala | |
| NM_001848.2:c.2200A>G , LRG_475t1:c.2200A>G | NP_001839.2:p.Thr734Ala | |
| NM_001848.3:c.2200A>G MANE Select | NP_001839.2:p.Thr734Ala |