Linked Data
ClinVar Variation Id:
198418
dbSNP Id:
rs778148534
ExAC:
21:45709913 G / A
gnomAD v2:
21-45709913-G-A
gnomAD v3:
21-44290030-G-A
gnomAD v4:
21-44290030-G-A
COSMIC:
COSM6028762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290030G>A , CM000683.2:g.44290030G>A | GRCh38 |
| NC_000021.8:g.45709913G>A , CM000683.1:g.45709913G>A | GRCh37 |
| NC_000021.7:g.44534341G>A | NCBI36 |
| NG_009556.1:g.9151G>A , LRG_18:g.9151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.841G>A MANE Select | ENSP00000291582.5:p.Ala281Thr | |
| ENST00000291582.5:c.841G>A | ENSP00000291582.5:p.Ala281Thr | |
| ENST00000527919.5:n.1574G>A | ||
| ENST00000530812.5:n.2591G>A | ||
| NM_000383.3:c.841G>A | NP_000374.1:p.Ala281Thr | |
| XM_011529551.1:c.841G>A | XP_011527853.1:p.Ala281Thr | |
| NM_000383.4:c.841G>A MANE Select | NP_000374.1:p.Ala281Thr |