Linked Data
ClinVar Variation Id:
2713659
ClinVar RCV Id:
RCV003499086
dbSNP Id:
rs1450289000
gnomAD v2:
7-82996948-G-C
gnomAD v4:
7-83367632-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367632G>C , CM000669.2:g.83367632G>C | GRCh38 |
| NC_000007.13:g.82996948G>C , CM000669.1:g.82996948G>C | GRCh37 |
| NC_000007.12:g.82834884G>C | NCBI36 |
| NG_021242.1:g.286532C>G | |
| NG_021242.2:g.286532C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.2102C>G | ENSP00000405052.1:p.Ser701Cys | |
| ENST00000643230.2:c.2282C>G MANE Select | ENSP00000496491.1:p.Ser761Cys | |
| ENST00000643441.1:n.2267C>G | ||
| ENST00000307792.7:c.2282C>G | ENSP00000303212.3:p.Ser761Cys | |
| ENST00000427262.5:c.2102C>G | ENSP00000405052.1:p.Ser701Cys | |
| NM_001178129.1:c.2102C>G | NP_001171600.1:p.Ser701Cys | |
| NM_012431.2:c.2282C>G | NP_036563.1:p.Ser761Cys | |
| NM_012431.3:c.2282C>G MANE Select | NP_036563.1:p.Ser761Cys | |
| NM_001178129.2:c.2102C>G | NP_001171600.1:p.Ser701Cys |