Linked Data
ClinVar Variation Id:
15748
ClinVar RCV Id:
RCV000017057
dbSNP Id:
rs35934411
PubMed:
PMID:4347947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176988G>A , CM000678.2:g.176988G>A | GRCh38 |
| NC_000016.9:g.226987G>A , CM000678.1:g.226987G>A | GRCh37 |
| NC_000016.8:g.166987G>A | NCBI36 |
| NG_000006.1:g.37851G>A | |
| NG_059186.1:g.5338G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.155G>A MANE Select | ENSP00000322421.5:p.Gly52Asp | |
| ENST00000397797.1:c.59G>A | ENSP00000380899.1:p.Gly20Asp | |
| ENST00000472694.1:n.291G>A | ||
| ENST00000487791.1:n.124G>A | ||
| NM_000558.4:c.155G>A | NP_000549.1:p.Gly52Asp | |
| NM_000558.5:c.155G>A MANE Select | NP_000549.1:p.Gly52Asp |