Linked Data
ClinVar Variation Id:
183170
ClinVar RCV Id:
RCV000162038
dbSNP Id:
rs730882158
gnomAD v2:
2-233388234-G-A
gnomAD v3:
2-232523524-G-A
gnomAD v4:
2-232523524-G-A
PubMed:
PMID:21850159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523524G>A , CM000664.2:g.232523524G>A | GRCh38 |
| NC_000002.11:g.233388234G>A , CM000664.1:g.233388234G>A | GRCh37 |
| NC_000002.10:g.233096478G>A | NCBI36 |
| NG_008028.1:g.2313G>A | |
| NG_031969.1:g.8062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.958G>A MANE Select | ENSP00000479745.1:p.Gly320Arg | |
| ENST00000449534.6:c.958G>A | ENSP00000473410.1:p.Gly320Arg | |
| ENST00000617714.1:c.958G>A | ENSP00000479745.1:p.Gly320Arg | |
| NM_001195129.1:c.958G>A | NP_001182058.1:p.Gly320Arg | |
| NM_001195129.2:c.958G>A MANE Select | NP_001182058.1:p.Gly320Arg | |
| NM_001369848.1:c.958G>A | NP_001356777.1:p.Gly320Arg |