Linked Data
ClinVar Variation Id:
31
dbSNP Id:
rs267606762
ExAC:
10:99358609 C / T
gnomAD v2:
10-99358609-C-T
gnomAD v3:
10-97598852-C-T
gnomAD v4:
10-97598852-C-T
PubMed:
PMID:20797690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598852C>T , CM000672.2:g.97598852C>T | GRCh38 |
| NC_000010.10:g.99358609C>T , CM000672.1:g.99358609C>T | GRCh37 |
| NC_000010.9:g.99348599C>T | NCBI36 |
| NG_027922.1:g.19508C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.289C>T MANE Select | ENSP00000359680.4:p.Arg97Cys | |
| ENST00000370646.8:c.289C>T | ENSP00000359680.4:p.Arg97Cys | |
| ENST00000370647.8:c.212-3005C>T | ENSP00000359681.4:n.212-3005C>T | |
| ENST00000370649.3:c.212-3005C>T | ENSP00000359683.3:n.212-3005C>T | |
| ENST00000465608.1:n.670C>T | ||
| NM_001134670.1:c.212-3005C>T | NP_001128142.1:n.212-3005C>T | |
| NM_138413.3:c.289C>T | NP_612422.2:p.Arg97Cys | |
| NM_138413.4:c.289C>T MANE Select | NP_612422.2:p.Arg97Cys | |
| NM_001134670.2:c.212-3005C>T | NP_001128142.1:n.212-3005C>T |