Linked Data
ClinVar Variation Id:
1937918
ClinVar RCV Id:
RCV002642941
MyVariant Identifiers:
chr9:g.34648794A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648797A>G , CM000671.2:g.34648797A>G | GRCh38 |
| NC_000009.11:g.34648794A>G , CM000671.1:g.34648794A>G | GRCh37 |
| NC_000009.10:g.34638794A>G | NCBI36 |
| NG_009029.1:g.7160A>G | |
| NG_028966.1:g.1613A>G | |
| NG_009029.2:g.7209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*311A>G | ENSP00000509954.1:n.*311A>G | |
| ENST00000378842.8:c.723A>G MANE Select | ENSP00000368119.4:p.Val241= | |
| ENST00000378842.7:c.723A>G | ENSP00000368119.3:p.Val241= | |
| ENST00000450095.6:c.396A>G | ENSP00000401956.2:p.Val132= | |
| ENST00000473506.6:c.*311A>G | ENSP00000432839.2:n.*311A>G | |
| ENST00000473529.5:n.882A>G | ||
| ENST00000487381.5:n.1413A>G | ||
| ENST00000489643.6:n.803A>G | ||
| ENST00000554085.5:c.*467A>G | ENSP00000450419.1:n.*467A>G | |
| ENST00000554550.5:c.*343A>G | ENSP00000451435.1:n.*343A>G | |
| ENST00000554638.5:n.1195A>G | ||
| ENST00000555020.5:n.1184A>G | ||
| ENST00000555086.5:n.727A>G | ||
| ENST00000555754.1:n.68A>G | ||
| ENST00000556244.1:c.710A>G | ||
| ENST00000556278.1:c.432+341A>G | ENSP00000451792.1:n.432+341A>G | |
| ENST00000557706.5:n.1285A>G | ||
| NM_000155.3:c.723A>G | NP_000146.2:p.Val241= | |
| NM_001258332.1:c.396A>G | NP_001245261.1:p.Val132= | |
| NM_000155.4:c.723A>G MANE Select | NP_000146.2:p.Val241= | |
| NM_001258332.2:c.396A>G | NP_001245261.1:p.Val132= |