Linked Data
ClinVar Variation Id:
8027
ClinVar RCV Id:
RCV000008491
dbSNP Id:
rs121434496
PubMed:
PMID:17357086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23803338C>T , CM000684.2:g.23803338C>T | GRCh38 |
| NC_000022.10:g.24145525C>T , CM000684.1:g.24145525C>T | GRCh37 |
| NC_000022.9:g.22475525C>T | NCBI36 |
| NG_009303.1:g.21376C>T , LRG_520:g.21376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.406C>T | ENSP00000263121.8:p.Gln136Ter | |
| ENST00000344921.11:c.571C>T | ENSP00000340883.6:p.Gln191Ter | |
| ENST00000407082.4:c.379C>T | ENSP00000385226.4:p.Gln127Ter | |
| ENST00000407422.8:c.517C>T | ENSP00000383984.3:p.Gln173Ter | |
| ENST00000417137.6:c.598C>T | ENSP00000388489.2:p.Gln200Ter | |
| ENST00000642275.1:n.792C>T | ||
| ENST00000642727.1:c.710C>T | ENSP00000495144.1:n.710C>T | |
| ENST00000643421.1:n.512C>T | ||
| ENST00000644036.2:c.544C>T MANE Select | ENSP00000494049.2:p.Gln182Ter | |
| ENST00000644462.1:c.1262C>T | ENSP00000494283.1:n.1262C>T | |
| ENST00000644467.1:n.1338C>T | ||
| ENST00000644619.1:c.*611C>T | ENSP00000494695.1:n.*611C>T | |
| ENST00000646723.1:n.2745C>T | ||
| ENST00000646911.1:n.456C>T | ||
| ENST00000647057.1:c.*38C>T | ENSP00000494757.1:n.*38C>T | |
| ENST00000263121.11:c.544C>T | ENSP00000263121.7:p.Gln182Ter | |
| ENST00000344921.10:c.571C>T | ENSP00000340883.6:p.Gln191Ter | |
| ENST00000407082.3:c.406C>T | ENSP00000385226.3:p.Gln136Ter | |
| ENST00000407422.7:c.517C>T | ENSP00000383984.3:p.Gln173Ter | |
| ENST00000417137.5:c.598C>T | ENSP00000388489.1:p.Gln200Ter | |
| NM_001007468.1:c.517C>T | NP_001007469.1:p.Gln173Ter | |
| NM_003073.3:c.544C>T , LRG_520t1:c.544C>T | NP_003064.2:p.Gln182Ter | |
| XM_011530345.1:c.598C>T | XP_011528647.1:p.Gln200Ter | |
| XM_011530346.1:c.571C>T | XP_011528648.1:p.Gln191Ter | |
| NM_001007468.2:c.517C>T | NP_001007469.1:p.Gln173Ter | |
| NM_001317946.1:c.571C>T | NP_001304875.1:p.Gln191Ter | |
| NM_001362877.1:c.598C>T | NP_001349806.1:p.Gln200Ter | |
| NM_003073.4:c.544C>T | NP_003064.2:p.Gln182Ter | |
| NM_001007468.3:c.517C>T | NP_001007469.1:p.Gln173Ter | |
| NM_001317946.2:c.571C>T | NP_001304875.1:p.Gln191Ter | |
| NM_001362877.2:c.598C>T | NP_001349806.1:p.Gln200Ter | |
| NM_003073.5:c.544C>T MANE Select | NP_003064.2:p.Gln182Ter |