Linked Data
ClinVar Variation Id:
309219
dbSNP Id:
rs549454829
gnomAD v2:
12-5026989-C-A
gnomAD v3:
12-4917823-C-A
gnomAD v4:
12-4917823-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4917823C>A , CM000674.2:g.4917823C>A | GRCh38 |
| NC_000012.11:g.5026989C>A , CM000674.1:g.5026989C>A | GRCh37 |
| NC_000012.10:g.4897250C>A | NCBI36 |
| NG_011815.1:g.12917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*4957C>A MANE Select | ENSP00000371985.3:n.*4957C>A | |
| ENST00000543874.3:n.143C>A | ||
| ENST00000639306.1:c.2221C>A | ENSP00000492506.1:n.2221C>A | |
| ENST00000639680.1:c.197C>A | ||
| ENST00000382545.3:c.*4957C>A | ENSP00000371985.3:n.*4957C>A | |
| ENST00000541095.1:n.105+7351C>A | ||
| ENST00000543874.2:n.134C>A | ||
| NM_000217.2:c.*4957C>A | NP_000208.2:n.*4957C>A | |
| NM_000217.3:c.*4957C>A MANE Select | NP_000208.2:n.*4957C>A |