Linked Data
ClinVar Variation Id:
25167
dbSNP Id:
rs111033682
gnomAD v3:
9-34647833-A-G
gnomAD v4:
9-34647833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647833A>G , CM000671.2:g.34647833A>G | GRCh38 |
| NC_000009.11:g.34647830A>G , CM000671.1:g.34647830A>G | GRCh37 |
| NC_000009.10:g.34637830A>G | NCBI36 |
| NG_009029.1:g.6196A>G | |
| NG_028966.1:g.649A>G | |
| NG_009029.2:g.6245A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.330A>G | ENSP00000509954.1:p.Val110= | |
| ENST00000378842.8:c.379A>G MANE Select | ENSP00000368119.4:p.Lys127Glu | |
| ENST00000378842.7:c.379A>G | ENSP00000368119.3:p.Lys127Glu | |
| ENST00000450095.6:c.52A>G | ENSP00000401956.2:p.Lys18Glu | |
| ENST00000465543.6:n.718A>G | ||
| ENST00000472111.5:n.635A>G | ||
| ENST00000473506.6:c.330A>G | ENSP00000432839.2:p.Val110= | |
| ENST00000473529.5:n.515A>G | ||
| ENST00000485531.1:n.820A>G | ||
| ENST00000487381.5:n.764A>G | ||
| ENST00000489643.6:n.283-282A>G | ||
| ENST00000554085.5:c.*123A>G | ENSP00000450419.1:n.*123A>G | |
| ENST00000554139.5:n.558A>G | ||
| ENST00000554330.5:n.542A>G | ||
| ENST00000554550.5:c.254A>G | ENSP00000451435.1:p.Ter85= | |
| ENST00000554638.5:n.851A>G | ||
| ENST00000554897.5:c.254A>G | ENSP00000450942.1:p.Ter85= | |
| ENST00000554944.5:n.575A>G | ||
| ENST00000555020.5:n.535A>G | ||
| ENST00000555086.5:n.383A>G | ||
| ENST00000555214.5:n.262-215A>G | ||
| ENST00000556244.1:c.366A>G | ||
| ENST00000556278.1:c.253-282A>G | ENSP00000451792.1:n.253-282A>G | |
| ENST00000556494.5:n.500A>G | ||
| ENST00000557541.5:n.523A>G | ||
| ENST00000557706.5:n.941A>G | ||
| NM_000155.3:c.379A>G | NP_000146.2:p.Lys127Glu | |
| NM_001258332.1:c.52A>G | NP_001245261.1:p.Lys18Glu | |
| NM_000155.4:c.379A>G MANE Select | NP_000146.2:p.Lys127Glu | |
| NM_001258332.2:c.52A>G | NP_001245261.1:p.Lys18Glu |