Linked Data
ClinVar Variation Id:
1126982
ClinVar RCV Id:
RCV001459237
dbSNP Id:
rs1767207852
gnomAD v3:
9-34648776-A-G
gnomAD v4:
9-34648776-A-G
MyVariant Identifiers:
chr9:g.34648773A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648776A>G , CM000671.2:g.34648776A>G | GRCh38 |
| NC_000009.11:g.34648773A>G , CM000671.1:g.34648773A>G | GRCh37 |
| NC_000009.10:g.34638773A>G | NCBI36 |
| NG_009029.1:g.7139A>G | |
| NG_028966.1:g.1592A>G | |
| NG_009029.2:g.7188A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*290A>G | ENSP00000509954.1:n.*290A>G | |
| ENST00000378842.8:c.702A>G MANE Select | ENSP00000368119.4:p.Leu234= | |
| ENST00000378842.7:c.702A>G | ENSP00000368119.3:p.Leu234= | |
| ENST00000450095.6:c.375A>G | ENSP00000401956.2:p.Leu125= | |
| ENST00000473506.6:c.*290A>G | ENSP00000432839.2:n.*290A>G | |
| ENST00000473529.5:n.861A>G | ||
| ENST00000487381.5:n.1392A>G | ||
| ENST00000489643.6:n.782A>G | ||
| ENST00000554085.5:c.*446A>G | ENSP00000450419.1:n.*446A>G | |
| ENST00000554550.5:c.*322A>G | ENSP00000451435.1:n.*322A>G | |
| ENST00000554638.5:n.1174A>G | ||
| ENST00000555020.5:n.1163A>G | ||
| ENST00000555086.5:n.706A>G | ||
| ENST00000555754.1:n.47A>G | ||
| ENST00000556244.1:c.689A>G | ||
| ENST00000556278.1:c.432+320A>G | ENSP00000451792.1:n.432+320A>G | |
| ENST00000557706.5:n.1264A>G | ||
| NM_000155.3:c.702A>G | NP_000146.2:p.Leu234= | |
| NM_001258332.1:c.375A>G | NP_001245261.1:p.Leu125= | |
| NM_000155.4:c.702A>G MANE Select | NP_000146.2:p.Leu234= | |
| NM_001258332.2:c.375A>G | NP_001245261.1:p.Leu125= |