Linked Data
ClinVar Variation Id:
288875
dbSNP Id:
rs781394145
ExAC:
21:47423793 G / A
gnomAD v2:
21-47423793-G-A
gnomAD v4:
21-46003879-G-A
COSMIC:
COSM2822172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003879G>A , CM000683.2:g.46003879G>A | GRCh38 |
| NC_000021.8:g.47423793G>A , CM000683.1:g.47423793G>A | GRCh37 |
| NC_000021.7:g.46248221G>A | NCBI36 |
| NG_008674.1:g.27131G>A , LRG_475:g.27131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1352G>A | ||
| ENST00000612273.2:c.1079G>A | ||
| ENST00000682634.1:c.1057+22G>A | ||
| ENST00000361866.8:c.2953G>A MANE Select | ENSP00000355180.3:p.Val985Ile | |
| ENST00000361866.7:c.2953G>A | ENSP00000355180.3:p.Val985Ile | |
| ENST00000486023.1:n.741G>A | ||
| ENST00000498614.5:n.1187G>A | ||
| ENST00000612273.1:c.2947G>A | ENSP00000483630.1:p.Val983Ile | |
| NM_001848.2:c.2953G>A , LRG_475t1:c.2953G>A | NP_001839.2:p.Val985Ile | |
| NM_001848.3:c.2953G>A MANE Select | NP_001839.2:p.Val985Ile |