Linked Data
ClinVar Variation Id:
309223
dbSNP Id:
rs41482147
gnomAD v2:
12-5027173-G-A
gnomAD v3:
12-4918007-G-A
gnomAD v4:
12-4918007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4918007G>A , CM000674.2:g.4918007G>A | GRCh38 |
| NC_000012.11:g.5027173G>A , CM000674.1:g.5027173G>A | GRCh37 |
| NC_000012.10:g.4897434G>A | NCBI36 |
| NG_011815.1:g.13101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*5141G>A MANE Select | ENSP00000371985.3:n.*5141G>A | |
| ENST00000543874.3:n.327G>A | ||
| ENST00000639306.1:c.2405G>A | ENSP00000492506.1:n.2405G>A | |
| ENST00000639680.1:c.381G>A | ||
| ENST00000382545.3:c.*5141G>A | ENSP00000371985.3:n.*5141G>A | |
| ENST00000541095.1:n.105+7535G>A | ||
| ENST00000543874.2:n.318G>A | ||
| NM_000217.2:c.*5141G>A | NP_000208.2:n.*5141G>A | |
| NM_000217.3:c.*5141G>A MANE Select | NP_000208.2:n.*5141G>A |