Linked Data
ClinVar Variation Id:
215
dbSNP Id:
rs121917725
ExAC:
19:33902603 G / A
gnomAD v2:
19-33902603-G-A
gnomAD v3:
19-33411697-G-A
gnomAD v4:
19-33411697-G-A
COSMIC:
COSM88492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33411697G>A , CM000681.2:g.33411697G>A | GRCh38 |
| NC_000019.9:g.33902603G>A , CM000681.1:g.33902603G>A | GRCh37 |
| NC_000019.8:g.38594443G>A | NCBI36 |
| NG_013358.1:g.115197C>T | |
| NG_013358.2:g.115197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.793C>T | ENSP00000468516.4:p.Arg265Ter | |
| ENST00000651901.2:c.793C>T | ENSP00000498922.2:p.Arg265Ter | |
| ENST00000698359.1:c.748C>T | ENSP00000513682.1:p.Arg250Ter | |
| ENST00000698360.1:c.844C>T | ENSP00000513683.1:p.Arg282Ter | |
| ENST00000698361.1:c.793C>T | ENSP00000513684.1:p.Arg265Ter | |
| ENST00000698362.1:c.793C>T | ENSP00000513685.1:p.Arg265Ter | |
| ENST00000698363.1:n.856C>T | ||
| ENST00000698364.1:n.856C>T | ||
| ENST00000698365.1:n.856C>T | ||
| ENST00000698426.1:c.472C>T | ENSP00000513713.1:p.Arg158Ter | |
| ENST00000698427.1:c.835C>T | ENSP00000513714.1:p.Arg279Ter | |
| ENST00000698428.1:c.472C>T | ENSP00000513715.1:p.Arg158Ter | |
| ENST00000698429.1:n.676C>T | ||
| ENST00000698430.1:c.1043C>T | ||
| ENST00000698431.1:c.530C>T | ENSP00000513717.1:n.530C>T | |
| ENST00000698432.1:c.602C>T | ||
| ENST00000698433.1:n.255C>T | ||
| ENST00000698434.1:n.280C>T | ||
| ENST00000698435.1:c.481C>T | ENSP00000513719.1:p.Arg161Ter | |
| ENST00000244137.12:c.793C>T MANE Select | ENSP00000244137.5:p.Arg265Ter | |
| ENST00000588328.6:c.782C>T | ||
| ENST00000590731.6:n.468C>T | ||
| ENST00000651901.1:c.789C>T | ||
| ENST00000244137.11:c.793C>T | ENSP00000244137.5:p.Arg265Ter | |
| ENST00000397032.8:c.670C>T | ENSP00000380226.3:p.Arg224Ter | |
| ENST00000436370.7:c.601C>T | ENSP00000391890.2:p.Arg201Ter | |
| ENST00000588328.5:c.284C>T | ||
| ENST00000588719.5:n.428C>T | ||
| ENST00000590731.5:n.468C>T | ||
| ENST00000593163.5:n.958C>T | ||
| ENST00000609145.5:c.226C>T | ENSP00000476514.1:p.Arg76Ter | |
| NM_000285.3:c.793C>T | NP_000276.2:p.Arg265Ter | |
| NM_001166056.1:c.670C>T | NP_001159528.1:p.Arg224Ter | |
| NM_001166057.1:c.601C>T | NP_001159529.1:p.Arg201Ter | |
| NM_000285.4:c.793C>T MANE Select | NP_000276.2:p.Arg265Ter | |
| NM_001166056.2:c.670C>T | NP_001159528.1:p.Arg224Ter | |
| NM_001166057.2:c.601C>T | NP_001159529.1:p.Arg201Ter |