Linked Data
ClinVar Variation Id:
101036
dbSNP Id:
rs587777178
ExAC:
22:21350154 C / T
gnomAD v2:
22-21350154-C-T
gnomAD v3:
22-20995865-C-T
gnomAD v4:
22-20995865-C-T
COSMIC:
COSM4476364
PubMed:
PMID:24362817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20995865C>T , CM000684.2:g.20995865C>T | GRCh38 |
| NC_000022.10:g.21350154C>T , CM000684.1:g.21350154C>T | GRCh37 |
| NC_000022.9:g.19680154C>T | NCBI36 |
| NG_034193.1:g.18597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.2062C>T | ENSP00000515073.1:p.Arg688Cys | |
| ENST00000415817.2:c.491C>T | ||
| ENST00000495142.6:n.2414C>T | ||
| ENST00000642151.1:c.1893C>T | ||
| ENST00000643578.1:n.2084C>T | ||
| ENST00000643710.1:n.923C>T | ||
| ENST00000646124.2:c.2062C>T MANE Select | ENSP00000496779.1:p.Arg688Cys | |
| ENST00000646506.1:n.1929C>T | ||
| ENST00000215739.12:c.2062C>T | ENSP00000215739.8:p.Arg688Cys | |
| ENST00000415354.6:c.491C>T | ENSP00000393765.2:n.491C>T | |
| ENST00000439171.5:c.461C>T | ||
| ENST00000452988.5:c.224C>T | ENSP00000408789.1:n.224C>T | |
| ENST00000463909.1:n.777C>T | ||
| ENST00000479606.5:n.2208C>T | ||
| ENST00000491432.5:n.483C>T | ||
| ENST00000495142.5:n.678C>T | ||
| ENST00000498649.1:n.78C>T | ||
| NM_006767.3:c.2062C>T | NP_006758.2:p.Arg688Cys | |
| NM_006767.4:c.2062C>T MANE Select | NP_006758.2:p.Arg688Cys |