Linked Data
ClinVar Variation Id:
66592
ClinVar RCV Id:
RCV000057015
dbSNP Id:
rs61145796
gnomAD v4:
12-52492668-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492668A>C , CM000674.2:g.52492668A>C | GRCh38 |
| NC_000012.11:g.52886452A>C , CM000674.1:g.52886452A>C | GRCh37 |
| NC_000012.10:g.51172719A>C | NCBI36 |
| NG_008298.1:g.5730T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.521T>G MANE Select | ENSP00000369317.3:p.Phe174Cys | |
| ENST00000330722.6:c.521T>G | ENSP00000369317.3:p.Phe174Cys | |
| ENST00000549898.5:n.42T>G | ||
| NM_005554.3:c.521T>G | NP_005545.1:p.Phe174Cys | |
| NM_005554.4:c.521T>G MANE Select | NP_005545.1:p.Phe174Cys |