Linked Data
ClinVar Variation Id:
309158
dbSNP Id:
rs144000949
gnomAD v2:
12-5022624-C-A
gnomAD v3:
12-4913458-C-A
gnomAD v4:
12-4913458-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4913458C>A , CM000674.2:g.4913458C>A | GRCh38 |
| NC_000012.11:g.5022624C>A , CM000674.1:g.5022624C>A | GRCh37 |
| NC_000012.10:g.4892885C>A | NCBI36 |
| NG_011815.1:g.8552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*592C>A MANE Select | ENSP00000371985.3:n.*592C>A | |
| ENST00000543874.3:n.105+2986C>A | ||
| ENST00000639306.1:c.1918C>A | ENSP00000492506.1:n.1918C>A | |
| ENST00000639680.1:c.77-183C>A | ||
| ENST00000382545.3:c.*592C>A | ENSP00000371985.3:n.*592C>A | |
| ENST00000541095.1:n.105+2986C>A | ||
| ENST00000543874.2:n.96+2986C>A | ||
| NM_000217.2:c.*592C>A | NP_000208.2:n.*592C>A | |
| NM_000217.3:c.*592C>A MANE Select | NP_000208.2:n.*592C>A |