Linked Data
ClinVar Variation Id:
525443
ClinVar RCV Id:
RCV000629502
dbSNP Id:
rs111822347
ExAC:
17:78011924 C / G
gnomAD v2:
17-78011924-C-G
gnomAD v3:
17-80038125-C-G
gnomAD v4:
17-80038125-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80038125C>G , CM000679.2:g.80038125C>G | GRCh38 |
| NC_000017.10:g.78011924C>G , CM000679.1:g.78011924C>G | GRCh37 |
| NC_000017.9:g.75626519C>G | NCBI36 |
| NG_029761.1:g.6494C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.32C>G MANE Select | ENSP00000380679.4:p.Ser11Cys | |
| ENST00000269318.9:c.32C>G | ENSP00000269318.5:p.Ser11Cys | |
| ENST00000374876.4:c.32C>G | ENSP00000364010.4:p.Ser11Cys | |
| ENST00000374877.7:c.32C>G | ENSP00000364011.3:p.Ser11Cys | |
| ENST00000397545.8:c.32C>G | ENSP00000380679.4:p.Ser11Cys | |
| ENST00000572083.5:n.31C>G | ||
| ENST00000572270.1:n.106+1368C>G | ||
| ENST00000574099.1:c.-59C>G | ENSP00000460002.1:n.-59C>G | |
| ENST00000576033.5:c.-59C>G | ENSP00000459489.1:n.-59C>G | |
| ENST00000576241.1:n.18C>G | ||
| NM_001243342.1:c.32C>G | NP_001230271.1:p.Ser11Cys | |
| NM_017950.3:c.32C>G | NP_060420.2:p.Ser11Cys | |
| XM_005257492.3:c.32C>G | XP_005257549.1:p.Ser11Cys | |
| XM_011524963.1:c.-59C>G | XP_011523265.1:n.-59C>G | |
| XM_011524965.1:c.32C>G | XP_011523267.1:p.Ser11Cys | |
| XR_934495.1:n.63C>G | ||
| NM_001330508.1:c.32C>G | NP_001317437.1:p.Ser11Cys | |
| XM_011524963.3:c.-59C>G | XP_011523265.1:n.-59C>G | |
| XM_011524965.3:c.32C>G | XP_011523267.1:p.Ser11Cys | |
| XM_017024807.1:c.32C>G | XP_016880296.1:p.Ser11Cys | |
| XM_024450821.1:c.-59C>G | XP_024306589.1:n.-59C>G | |
| XR_001752550.2:n.63C>G | ||
| XR_934495.2:n.63C>G | ||
| NM_017950.4:c.32C>G MANE Select | NP_060420.2:p.Ser11Cys | |
| NM_001330508.2:c.32C>G | NP_001317437.1:p.Ser11Cys | |
| NM_001243342.2:c.32C>G | NP_001230271.1:p.Ser11Cys |