Linked Data
ClinVar Variation Id:
2840411
ClinVar RCV Id:
RCV003608772
MyVariant Identifiers:
chr9:g.34648363C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648366C>G , CM000671.2:g.34648366C>G | GRCh38 |
| NC_000009.11:g.34648363C>G , CM000671.1:g.34648363C>G | GRCh37 |
| NC_000009.10:g.34638363C>G | NCBI36 |
| NG_009029.1:g.6729C>G | |
| NG_028966.1:g.1182C>G | |
| NG_009029.2:g.6778C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*185C>G | ENSP00000509954.1:n.*185C>G | |
| ENST00000378842.8:c.597C>G MANE Select | ENSP00000368119.4:p.Ala199= | |
| ENST00000378842.7:c.597C>G | ENSP00000368119.3:p.Ala199= | |
| ENST00000450095.6:c.270C>G | ENSP00000401956.2:p.Ala90= | |
| ENST00000472111.5:n.853C>G | ||
| ENST00000473506.6:c.*185C>G | ENSP00000432839.2:n.*185C>G | |
| ENST00000473529.5:n.756C>G | ||
| ENST00000485531.1:n.1191C>G | ||
| ENST00000487381.5:n.982C>G | ||
| ENST00000489643.6:n.372C>G | ||
| ENST00000554085.5:c.*341C>G | ENSP00000450419.1:n.*341C>G | |
| ENST00000554139.5:n.843C>G | ||
| ENST00000554550.5:c.*217C>G | ENSP00000451435.1:n.*217C>G | |
| ENST00000554638.5:n.1069C>G | ||
| ENST00000554897.5:c.*284C>G | ENSP00000450942.1:n.*284C>G | |
| ENST00000554944.5:n.946C>G | ||
| ENST00000555020.5:n.753C>G | ||
| ENST00000555086.5:n.601C>G | ||
| ENST00000555214.5:n.418C>G | ||
| ENST00000556244.1:c.584C>G | ||
| ENST00000556278.1:c.342C>G | ENSP00000451792.1:p.Ala114= | |
| ENST00000556494.5:n.718C>G | ||
| ENST00000557706.5:n.1159C>G | ||
| NM_000155.3:c.597C>G | NP_000146.2:p.Ala199= | |
| NM_001258332.1:c.270C>G | NP_001245261.1:p.Ala90= | |
| NM_000155.4:c.597C>G MANE Select | NP_000146.2:p.Ala199= | |
| NM_001258332.2:c.270C>G | NP_001245261.1:p.Ala90= |