Linked Data
ClinVar Variation Id:
458617
dbSNP Id:
rs146810389
ExAC:
21:45706533 G / A
gnomAD v2:
21-45706533-G-A
gnomAD v3:
21-44286650-G-A
gnomAD v4:
21-44286650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286650G>A , CM000683.2:g.44286650G>A | GRCh38 |
| NC_000021.8:g.45706533G>A , CM000683.1:g.45706533G>A | GRCh37 |
| NC_000021.7:g.44530961G>A | NCBI36 |
| NG_009556.1:g.5771G>A , LRG_18:g.5771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.226G>A MANE Select | ENSP00000291582.5:p.Asp76Asn | |
| ENST00000291582.5:c.226G>A | ENSP00000291582.5:p.Asp76Asn | |
| ENST00000527919.5:n.387G>A | ||
| ENST00000530812.5:n.395G>A | ||
| NM_000383.3:c.226G>A | NP_000374.1:p.Asp76Asn | |
| XM_011529551.1:c.226G>A | XP_011527853.1:p.Asp76Asn | |
| NM_000383.4:c.226G>A MANE Select | NP_000374.1:p.Asp76Asn |