Linked Data
ClinVar Variation Id:
3622
dbSNP Id:
rs111033736
gnomAD v2:
9-34648373-G-A
gnomAD v3:
9-34648376-G-A
gnomAD v4:
9-34648376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648376G>A , CM000671.2:g.34648376G>A | GRCh38 |
| NC_000009.11:g.34648373G>A , CM000671.1:g.34648373G>A | GRCh37 |
| NC_000009.10:g.34638373G>A | NCBI36 |
| NG_009029.1:g.6739G>A | |
| NG_028966.1:g.1192G>A | |
| NG_009029.2:g.6788G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*195G>A | ENSP00000509954.1:n.*195G>A | |
| ENST00000378842.8:c.607G>A MANE Select | ENSP00000368119.4:p.Glu203Lys | |
| ENST00000378842.7:c.607G>A | ENSP00000368119.3:p.Glu203Lys | |
| ENST00000450095.6:c.280G>A | ENSP00000401956.2:p.Glu94Lys | |
| ENST00000472111.5:n.863G>A | ||
| ENST00000473506.6:c.*195G>A | ENSP00000432839.2:n.*195G>A | |
| ENST00000473529.5:n.766G>A | ||
| ENST00000485531.1:n.1201G>A | ||
| ENST00000487381.5:n.992G>A | ||
| ENST00000489643.6:n.382G>A | ||
| ENST00000554085.5:c.*351G>A | ENSP00000450419.1:n.*351G>A | |
| ENST00000554139.5:n.853G>A | ||
| ENST00000554550.5:c.*227G>A | ENSP00000451435.1:n.*227G>A | |
| ENST00000554638.5:n.1079G>A | ||
| ENST00000554944.5:n.956G>A | ||
| ENST00000555020.5:n.763G>A | ||
| ENST00000555086.5:n.611G>A | ||
| ENST00000555214.5:n.428G>A | ||
| ENST00000556244.1:c.594G>A | ||
| ENST00000556278.1:c.352G>A | ENSP00000451792.1:p.Glu118Lys | |
| ENST00000556494.5:n.728G>A | ||
| ENST00000557706.5:n.1169G>A | ||
| NM_000155.3:c.607G>A | NP_000146.2:p.Glu203Lys | |
| NM_001258332.1:c.280G>A | NP_001245261.1:p.Glu94Lys | |
| NM_000155.4:c.607G>A MANE Select | NP_000146.2:p.Glu203Lys | |
| NM_001258332.2:c.280G>A | NP_001245261.1:p.Glu94Lys |