Linked Data
ClinVar Variation Id:
2545665
ClinVar RCV Id:
RCV003292489
dbSNP Id:
rs1668296481
gnomAD v3:
1-182858557-C-G
gnomAD v4:
1-182858557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182858557C>G , CM000663.2:g.182858557C>G | GRCh38 |
| NC_000001.10:g.182827692C>G , CM000663.1:g.182827692C>G | GRCh37 |
| NC_000001.9:g.181094315C>G | NCBI36 |
| NG_029930.1:g.24254C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367549.4:c.817C>G MANE Select | ENSP00000356520.3:p.Pro273Ala | |
| ENST00000367549.3:c.817C>G | ENSP00000356520.3:p.Pro273Ala | |
| NM_001357.4:c.817C>G | NP_001348.2:p.Pro273Ala | |
| NR_033302.1:n.1129C>G | ||
| NM_001357.5:c.817C>G MANE Select | NP_001348.2:p.Pro273Ala | |
| NR_033302.2:n.1086C>G |