Linked Data
dbSNP Id:
rs1324188528
gnomAD v2:
10-13325721-G-C
gnomAD v3:
10-13283721-G-C
gnomAD v4:
10-13283721-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283721G>C , CM000672.2:g.13283721G>C | GRCh38 |
| NC_000010.10:g.13325721G>C , CM000672.1:g.13325721G>C | GRCh37 |
| NC_000010.9:g.13365727G>C | NCBI36 |
| NG_012862.1:g.21410C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.797C>G MANE Select | ENSP00000263038.4:p.Ser266Cys | |
| ENST00000263038.8:c.797C>G | ENSP00000263038.4:p.Ser266Cys | |
| ENST00000396913.6:c.497C>G | ENSP00000380121.2:p.Ser166Cys | |
| ENST00000396920.7:c.746C>G | ENSP00000380126.3:p.Ser249Cys | |
| ENST00000453759.6:c.497C>G | ENSP00000412525.2:p.Ser166Cys | |
| NM_001037537.1:c.497C>G | NP_001032626.1:p.Ser166Cys | |
| NM_006214.3:c.797C>G | NP_006205.1:p.Ser266Cys | |
| XM_005252469.2:c.578C>G | XP_005252526.1:p.Ser193Cys | |
| NM_001323080.1:c.497C>G | NP_001310009.1:p.Ser166Cys | |
| NM_001323082.1:c.803C>G | NP_001310011.1:p.Ser268Cys | |
| NM_001323083.1:c.533C>G | NP_001310012.1:p.Ser178Cys | |
| NM_001323084.1:c.503C>G | NP_001310013.1:p.Ser168Cys | |
| NM_006214.4:c.797C>G MANE Select | NP_006205.1:p.Ser266Cys | |
| NM_001037537.2:c.497C>G | NP_001032626.1:p.Ser166Cys | |
| NM_001323080.2:c.497C>G | NP_001310009.1:p.Ser166Cys | |
| NM_001323082.2:c.803C>G | NP_001310011.1:p.Ser268Cys | |
| NM_001323083.2:c.533C>G | NP_001310012.1:p.Ser178Cys | |
| NM_001323084.2:c.503C>G | NP_001310013.1:p.Ser168Cys |