Linked Data
ClinVar Variation Id:
25265
dbSNP Id:
rs111033764
ExAC:
9:34648864 C / G
gnomAD v4:
9-34648867-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648867C>G , CM000671.2:g.34648867C>G | GRCh38 |
| NC_000009.11:g.34648864C>G , CM000671.1:g.34648864C>G | GRCh37 |
| NC_000009.10:g.34638864C>G | NCBI36 |
| NG_009029.1:g.7230C>G | |
| NG_028966.1:g.1683C>G | |
| NG_009029.2:g.7279C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*381C>G | ENSP00000509954.1:n.*381C>G | |
| ENST00000378842.8:c.793C>G MANE Select | ENSP00000368119.4:p.Pro265Ala | |
| ENST00000378842.7:c.793C>G | ENSP00000368119.3:p.Pro265Ala | |
| ENST00000450095.6:c.466C>G | ENSP00000401956.2:p.Pro156Ala | |
| ENST00000473506.6:c.*381C>G | ENSP00000432839.2:n.*381C>G | |
| ENST00000489643.6:n.873C>G | ||
| ENST00000554085.5:c.*537C>G | ENSP00000450419.1:n.*537C>G | |
| ENST00000554550.5:c.*413C>G | ENSP00000451435.1:n.*413C>G | |
| ENST00000554638.5:n.1265C>G | ||
| ENST00000555020.5:n.1254C>G | ||
| ENST00000555086.5:n.797C>G | ||
| ENST00000555754.1:n.138C>G | ||
| ENST00000556244.1:c.780C>G | ||
| ENST00000556278.1:c.432+411C>G | ENSP00000451792.1:n.432+411C>G | |
| ENST00000557706.5:n.1355C>G | ||
| NM_000155.3:c.793C>G | NP_000146.2:p.Pro265Ala | |
| NM_001258332.1:c.466C>G | NP_001245261.1:p.Pro156Ala | |
| NM_000155.4:c.793C>G MANE Select | NP_000146.2:p.Pro265Ala | |
| NM_001258332.2:c.466C>G | NP_001245261.1:p.Pro156Ala |