Linked Data
ClinVar Variation Id:
3076321
ClinVar RCV Id:
RCV004372121
dbSNP Id:
rs1398747078
gnomAD v2:
9-131085307-G-A
gnomAD v4:
9-128323028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128323028G>A , CM000671.2:g.128323028G>A | GRCh38 |
| NC_000009.11:g.131085307G>A , CM000671.1:g.131085307G>A | GRCh37 |
| NC_000009.10:g.130125128G>A | NCBI36 |
| NG_042101.1:g.5521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.83G>A MANE Select | ENSP00000300452.3:p.Arg28Gln | |
| ENST00000300452.7:c.83G>A | ENSP00000300452.3:p.Arg28Gln | |
| ENST00000372875.3:c.83G>A | ENSP00000361966.3:p.Arg28Gln | |
| ENST00000608951.5:c.83G>A | ENSP00000476323.1:p.Arg28Gln | |
| ENST00000609948.1:c.83G>A | ENSP00000477292.1:p.Arg28Gln | |
| NM_001305942.1:c.83G>A | NP_001292871.1:p.Arg28Gln | |
| NM_016035.3:c.83G>A | NP_057119.2:p.Arg28Gln | |
| NM_016035.4:c.83G>A | NP_057119.2:p.Arg28Gln | |
| XM_011518761.1:c.83G>A | XP_011517063.1:p.Arg28Gln | |
| XR_929805.1:n.429G>A | ||
| XM_017014792.1:c.83G>A | XP_016870281.1:p.Arg28Gln | |
| XM_017014793.1:c.83G>A | XP_016870282.1:p.Arg28Gln | |
| XR_001746316.2:n.433G>A | ||
| XR_929805.3:n.429G>A | ||
| NM_016035.5:c.83G>A MANE Select | NP_057119.3:p.Arg28Gln | |
| NM_001305942.2:c.83G>A | NP_001292871.2:p.Arg28Gln |