Linked Data
ClinVar Variation Id:
12010
ClinVar RCV Id:
RCV000012790
dbSNP Id:
rs104894571
PubMed:
PMID:9332655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909353T>G , CM000679.2:g.42909353T>G | GRCh38 |
| NC_000017.10:g.41061370T>G , CM000679.1:g.41061370T>G | GRCh37 |
| NC_000017.9:g.38314896T>G | NCBI36 |
| NG_011808.1:g.13556T>G , LRG_147:g.13556T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.497T>G MANE Select | ENSP00000253801.1:p.Val166Gly | |
| ENST00000253801.6:c.497T>G | ENSP00000253801.1:p.Val166Gly | |
| ENST00000585489.1:c.447-1562T>G | ENSP00000466202.1:n.447-1562T>G | |
| ENST00000592383.5:c.420T>G | ENSP00000465958.1:p.Cys140Trp | |
| NM_000151.3:c.497T>G | NP_000142.2:p.Val166Gly | |
| NM_001270397.1:c.420T>G | NP_001257326.1:p.Cys140Trp | |
| NM_000151.4:c.497T>G MANE Select | NP_000142.2:p.Val166Gly | |
| NM_001270397.2:c.420T>G | NP_001257326.1:p.Cys140Trp |