Linked Data
ClinVar Variation Id:
1935112
ClinVar RCV Id:
RCV002638904
dbSNP Id:
rs572002344
ExAC:
21:45706976 C / A
gnomAD v2:
21-45706976-C-A
gnomAD v4:
21-44287093-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287093C>A , CM000683.2:g.44287093C>A | GRCh38 |
| NC_000021.8:g.45706976C>A , CM000683.1:g.45706976C>A | GRCh37 |
| NC_000021.7:g.44531404C>A | NCBI36 |
| NG_009556.1:g.6214C>A , LRG_18:g.6214C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.423C>A MANE Select | ENSP00000291582.5:p.Ala141= | |
| ENST00000291582.5:c.423C>A | ENSP00000291582.5:p.Ala141= | |
| ENST00000527919.5:n.584C>A | ||
| ENST00000530812.5:n.592C>A | ||
| NM_000383.3:c.423C>A | NP_000374.1:p.Ala141= | |
| XM_011529551.1:c.423C>A | XP_011527853.1:p.Ala141= | |
| NM_000383.4:c.423C>A MANE Select | NP_000374.1:p.Ala141= |