Linked Data
ClinVar Variation Id:
372232
ClinVar RCV Id:
RCV000412606
dbSNP Id:
rs1057517684
gnomAD v2:
1-17722159-G-A
gnomAD v4:
1-17395663-G-A
PubMed:
PMID:27545678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395663G>A , CM000663.2:g.17395663G>A | GRCh38 |
| NC_000001.10:g.17722159G>A , CM000663.1:g.17722159G>A | GRCh37 |
| NC_000001.9:g.17594746G>A | NCBI36 |
| NG_032943.1:g.28418G>A | |
| NG_032943.2:g.28418G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1618G>A MANE Select | ENSP00000483125.1:p.Gly540Arg | |
| NM_207421.4:c.1618G>A MANE Select | NP_997304.3:p.Gly540Arg |