Linked Data
ClinVar Variation Id:
282124
dbSNP Id:
rs886042316
gnomAD v4:
12-4911522-C-T
COSMIC:
COSM1362227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911522C>T , CM000674.2:g.4911522C>T | GRCh38 |
| NC_000012.11:g.5020688C>T , CM000674.1:g.5020688C>T | GRCh37 |
| NC_000012.10:g.4890949C>T | NCBI36 |
| NG_011815.1:g.6616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.144C>T MANE Select | ENSP00000371985.3:p.Phe48= | |
| ENST00000543874.3:n.105+1050C>T | ||
| ENST00000382545.3:c.144C>T | ENSP00000371985.3:p.Phe48= | |
| ENST00000541095.1:n.105+1050C>T | ||
| ENST00000543874.2:n.96+1050C>T | ||
| NM_000217.2:c.144C>T | NP_000208.2:p.Phe48= | |
| NM_000217.3:c.144C>T MANE Select | NP_000208.2:p.Phe48= |