Linked Data
ClinVar Variation Id:
25276
dbSNP Id:
rs111033772
gnomAD v4:
9-34649021-C-G
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649021C>G , CM000671.2:g.34649021C>G | GRCh38 |
| NC_000009.11:g.34649018C>G , CM000671.1:g.34649018C>G | GRCh37 |
| NC_000009.10:g.34639018C>G | NCBI36 |
| NG_009029.1:g.7384C>G | |
| NG_028966.1:g.1837C>G | |
| NG_009029.2:g.7433C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*432C>G | ENSP00000509954.1:n.*432C>G | |
| ENST00000378842.8:c.844C>G MANE Select | ENSP00000368119.4:p.Leu282Val | |
| ENST00000378842.7:c.844C>G | ENSP00000368119.3:p.Leu282Val | |
| ENST00000450095.6:c.517C>G | ENSP00000401956.2:p.Leu173Val | |
| ENST00000488412.2:n.100C>G | ||
| ENST00000489643.6:n.924C>G | ||
| ENST00000554085.5:c.*588C>G | ENSP00000450419.1:n.*588C>G | |
| ENST00000554550.5:c.*464C>G | ENSP00000451435.1:n.*464C>G | |
| ENST00000554638.5:n.1316C>G | ||
| ENST00000555020.5:n.1305C>G | ||
| ENST00000555086.5:n.951C>G | ||
| ENST00000555754.1:n.292C>G | ||
| ENST00000556278.1:c.432+565C>G | ENSP00000451792.1:n.432+565C>G | |
| ENST00000557706.5:n.1419C>G | ||
| NM_000155.3:c.844C>G | NP_000146.2:p.Leu282Val | |
| NM_001258332.1:c.517C>G | NP_001245261.1:p.Leu173Val | |
| NM_000155.4:c.844C>G MANE Select | NP_000146.2:p.Leu282Val | |
| NM_001258332.2:c.517C>G | NP_001245261.1:p.Leu173Val |