Linked Data
ClinVar Variation Id:
13493
ClinVar RCV Id:
RCV000014437
dbSNP Id:
rs28933383
PubMed:
PMID:17136396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912055C>A , CM000674.2:g.4912055C>A | GRCh38 |
| NC_000012.11:g.5021221C>A , CM000674.1:g.5021221C>A | GRCh37 |
| NC_000012.10:g.4891482C>A | NCBI36 |
| NG_011815.1:g.7149C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.677C>A MANE Select | ENSP00000371985.3:p.Thr226Lys | |
| ENST00000543874.3:n.105+1583C>A | ||
| ENST00000639306.1:c.515C>A | ENSP00000492506.1:p.Thr172Lys | |
| ENST00000382545.3:c.677C>A | ENSP00000371985.3:p.Thr226Lys | |
| ENST00000541095.1:n.105+1583C>A | ||
| ENST00000543874.2:n.96+1583C>A | ||
| NM_000217.2:c.677C>A | NP_000208.2:p.Thr226Lys | |
| NM_000217.3:c.677C>A MANE Select | NP_000208.2:p.Thr226Lys |