Linked Data
ClinVar Variation Id:
1528
ClinVar RCV Id:
RCV000001592
dbSNP Id:
rs118204067
gnomAD v2:
8-19811782-C-G
gnomAD v4:
8-19954271-C-G
PubMed:
PMID:1752947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954271C>G , CM000670.2:g.19954271C>G | GRCh38 |
| NC_000008.10:g.19811782C>G , CM000670.1:g.19811782C>G | GRCh37 |
| NC_000008.9:g.19856062C>G | NCBI36 |
| NG_008855.1:g.20201C>G | |
| NG_008855.2:g.57555C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.693C>G MANE Select | ENSP00000497642.1:p.Asp231Glu | |
| ENST00000311322.8:c.693C>G | ENSP00000309757.6:p.Asp231Glu | |
| NM_000237.2:c.693C>G | NP_000228.1:p.Asp231Glu | |
| NM_000237.3:c.693C>G MANE Select | NP_000228.1:p.Asp231Glu |