Linked Data
ClinVar Variation Id:
283762
dbSNP Id:
rs145473829
ExAC:
21:47407527 G / A
gnomAD v2:
21-47407527-G-A
gnomAD v3:
21-45987613-G-A
gnomAD v4:
21-45987613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987613G>A , CM000683.2:g.45987613G>A | GRCh38 |
| NC_000021.8:g.47407527G>A , CM000683.1:g.47407527G>A | GRCh37 |
| NC_000021.7:g.46231955G>A | NCBI36 |
| NG_008674.1:g.10865G>A , LRG_475:g.10865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.763G>A MANE Select | ENSP00000355180.3:p.Ala255Thr | |
| ENST00000361866.7:c.763G>A | ENSP00000355180.3:p.Ala255Thr | |
| ENST00000492851.1:n.415G>A | ||
| ENST00000612273.1:c.763G>A | ENSP00000483630.1:p.Ala255Thr | |
| NM_001848.2:c.763G>A , LRG_475t1:c.763G>A | NP_001839.2:p.Ala255Thr | |
| NM_001848.3:c.763G>A MANE Select | NP_001839.2:p.Ala255Thr |