Linked Data
ClinVar Variation Id:
2224078
ClinVar RCV Id:
RCV004090623
dbSNP Id:
rs771258124
ExAC:
21:45876705 G / A
gnomAD v2:
21-45876705-G-A
gnomAD v3:
21-44456822-G-A
gnomAD v4:
21-44456822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456822G>A , CM000683.2:g.44456822G>A | GRCh38 |
| NC_000021.8:g.45876705G>A , CM000683.1:g.45876705G>A | GRCh37 |
| NC_000021.7:g.44701133G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.178G>A MANE Select | ENSP00000291592.4:p.Glu60Lys | |
| ENST00000291592.5:c.178G>A | ENSP00000291592.4:p.Glu60Lys | |
| NM_030891.4:c.178G>A | NP_112153.1:p.Glu60Lys | |
| NM_030891.5:c.178G>A | NP_112153.1:p.Glu60Lys | |
| NM_030891.6:c.178G>A MANE Select | NP_112153.1:p.Glu60Lys |