Linked Data
ClinVar Variation Id:
2836668
ClinVar RCV Id:
RCV003640049
dbSNP Id:
rs746999540
gnomAD v4:
22-41152292-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41152292C>A , CM000684.2:g.41152292C>A | GRCh38 |
| NC_000022.10:g.41548296C>A , CM000684.1:g.41548296C>A | GRCh37 |
| NC_000022.9:g.39878242C>A | NCBI36 |
| NG_009817.1:g.64683C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*1004C>A | ENSP00000515365.1:n.*1004C>A | |
| ENST00000703545.1:c.2874C>A | ||
| ENST00000263253.9:c.3084C>A MANE Select | ENSP00000263253.7:p.Asp1028Glu | |
| ENST00000674155.1:c.3006C>A | ENSP00000501078.1:p.Asp1002Glu | |
| ENST00000263253.8:c.3084C>A | ENSP00000263253.7:p.Asp1028Glu | |
| NM_001429.3:c.3084C>A | NP_001420.2:p.Asp1028Glu | |
| XM_006724165.2:c.3006C>A | XP_006724228.1:p.Asp1002Glu | |
| NM_001362843.1:c.3006C>A | NP_001349772.1:p.Asp1002Glu | |
| NM_001429.4:c.3084C>A MANE Select | NP_001420.2:p.Asp1028Glu | |
| NM_001362843.2:c.3006C>A | NP_001349772.1:p.Asp1002Glu |