Linked Data
ClinVar Variation Id:
1988061
ClinVar RCV Id:
RCV002781110
dbSNP Id:
rs775398772
ExAC:
12:5153895 C / A
gnomAD v2:
12-5153895-C-A
gnomAD v4:
12-5044729-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044729C>A , CM000674.2:g.5044729C>A | GRCh38 |
| NC_000012.11:g.5153895C>A , CM000674.1:g.5153895C>A | GRCh37 |
| NC_000012.10:g.5024156C>A | NCBI36 |
| NG_012198.1:g.5811C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.582C>A MANE Select | ENSP00000252321.3:p.Asp194Glu | |
| ENST00000252321.4:c.582C>A | ENSP00000252321.3:p.Asp194Glu | |
| NM_002234.3:c.582C>A | NP_002225.2:p.Asp194Glu | |
| NM_002234.4:c.582C>A MANE Select | NP_002225.2:p.Asp194Glu |