Linked Data
ClinVar Variation Id:
1083557
ClinVar RCV Id:
RCV001400285
dbSNP Id:
rs777290325
ExAC:
21:45708229 G / A
gnomAD v2:
21-45708229-G-A
gnomAD v4:
21-44288346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288346G>A , CM000683.2:g.44288346G>A | GRCh38 |
| NC_000021.8:g.45708229G>A , CM000683.1:g.45708229G>A | GRCh37 |
| NC_000021.7:g.44532657G>A | NCBI36 |
| NG_009556.1:g.7467G>A , LRG_18:g.7467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.540G>A MANE Select | ENSP00000291582.5:p.Gly180= | |
| ENST00000291582.5:c.540G>A | ENSP00000291582.5:p.Gly180= | |
| ENST00000527919.5:n.1084G>A | ||
| ENST00000530812.5:n.1092G>A | ||
| NM_000383.3:c.540G>A | NP_000374.1:p.Gly180= | |
| XM_011529551.1:c.540G>A | XP_011527853.1:p.Gly180= | |
| NM_000383.4:c.540G>A MANE Select | NP_000374.1:p.Gly180= |