Linked Data
ClinVar Variation Id:
214500
dbSNP Id:
rs201408725
ExAC:
3:158408053 C / T
gnomAD v2:
3-158408053-C-T
gnomAD v3:
3-158690264-C-T
gnomAD v4:
3-158690264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158690264C>T , CM000665.2:g.158690264C>T | GRCh38 |
| NC_000003.11:g.158408053C>T , CM000665.1:g.158408053C>T | GRCh37 |
| NC_000003.10:g.159890747C>T | NCBI36 |
| NG_008441.1:g.50737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.2011C>T MANE Select | ENSP00000419038.1:p.Arg671Cys | |
| ENST00000264263.9:c.2068C>T | ENSP00000264263.5:p.Arg690Cys | |
| ENST00000472383.1:c.39-875C>T | ||
| ENST00000477721.1:n.417C>T | ||
| ENST00000478254.5:c.*651C>T | ENSP00000417225.1:n.*651C>T | |
| ENST00000486715.5:c.2011C>T | ENSP00000419038.1:p.Arg671Cys | |
| NM_001308164.1:c.2068C>T | NP_001295093.1:p.Arg690Cys | |
| NM_024996.5:c.2011C>T | NP_079272.4:p.Arg671Cys | |
| XM_006713795.1:c.1894C>T | XP_006713858.1:p.Arg632Cys | |
| XM_006713795.2:c.1894C>T | XP_006713858.1:p.Arg632Cys | |
| NM_001374355.1:c.1930C>T | NP_001361284.1:p.Arg644Cys | |
| NM_001374356.1:c.1894C>T | NP_001361285.1:p.Arg632Cys | |
| NM_001374357.1:c.1786C>T | NP_001361286.1:p.Arg596Cys | |
| NM_001374358.1:c.1552C>T | NP_001361287.1:p.Arg518Cys | |
| NM_001374359.1:c.1444C>T | NP_001361288.1:p.Arg482Cys | |
| NM_001374360.1:c.1444C>T | NP_001361289.1:p.Arg482Cys | |
| NM_001374361.1:c.1327C>T | NP_001361290.1:p.Arg443Cys | |
| NM_024996.7:c.2011C>T MANE Select | NP_079272.4:p.Arg671Cys | |
| NR_164499.1:n.2034C>T | ||
| NR_164500.1:n.1974C>T | ||
| NR_164501.1:n.1519C>T | ||
| NR_164502.1:n.1998C>T | ||
| NM_001308164.2:c.2068C>T | NP_001295093.1:p.Arg690Cys |