Linked Data
ClinVar Variation Id:
15650
ClinVar RCV Id:
RCV000016936
dbSNP Id:
rs111033604
PubMed:
PMID:12144061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172942C>G , CM000678.2:g.172942C>G | GRCh38 |
| NC_000016.9:g.222941C>G , CM000678.1:g.222941C>G | GRCh37 |
| NC_000016.8:g.162941C>G | NCBI36 |
| NG_000006.1:g.33805C>G | |
| NG_059186.1:g.1292C>G | |
| NG_059271.1:g.5096C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.30C>G MANE Select | ENSP00000251595.6:p.Asn10Lys | |
| ENST00000251595.10:c.30C>G | ENSP00000251595.6:p.Asn10Lys | |
| ENST00000397806.1:c.-18C>G | ENSP00000380908.1:n.-18C>G | |
| ENST00000482565.1:n.49C>G | ||
| NM_000517.4:c.30C>G | NP_000508.1:p.Asn10Lys | |
| NM_000517.6:c.30C>G MANE Select | NP_000508.1:p.Asn10Lys |