Linked Data
ClinVar Variation Id:
14653
ClinVar RCV Id:
RCV001731189
dbSNP Id:
rs59190510
PubMed:
PMID:10383750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516647C>A , CM000674.2:g.52516647C>A | GRCh38 |
| NC_000012.11:g.52910431C>A , CM000674.1:g.52910431C>A | GRCh37 |
| NC_000012.10:g.51196698C>A | NCBI36 |
| NG_008297.1:g.8813G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.1429G>T MANE Select | ENSP00000252242.4:p.Glu477Ter | |
| ENST00000252242.8:c.1429G>T | ENSP00000252242.4:p.Glu477Ter | |
| ENST00000548409.5:c.551G>T | ||
| ENST00000549511.5:n.636G>T | ||
| ENST00000552629.5:n.1527G>T | ||
| NM_000424.3:c.1429G>T | NP_000415.2:p.Glu477Ter | |
| NM_000424.4:c.1429G>T MANE Select | NP_000415.2:p.Glu477Ter |