Linked Data
ClinVar Variation Id:
327122
dbSNP Id:
rs542839921
gnomAD v2:
18-48605904-G-A
gnomAD v3:
18-51079534-G-A
gnomAD v4:
18-51079534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51079534G>A , CM000680.2:g.51079534G>A | GRCh38 |
| NC_000018.9:g.48605904G>A , CM000680.1:g.48605904G>A | GRCh37 |
| NC_000018.8:g.46859902G>A | NCBI36 |
| NG_013013.2:g.116495G>A , LRG_318:g.116495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.*1067G>A | ENSP00000465878.2:n.*1067G>A | |
| ENST00000589076.6:c.*1067G>A | ENSP00000466934.2:n.*1067G>A | |
| ENST00000589941.2:c.*1067G>A | ENSP00000465874.2:n.*1067G>A | |
| ENST00000590061.2:c.*1067G>A | ENSP00000464772.2:n.*1067G>A | |
| ENST00000593223.2:c.*2723G>A | ENSP00000466118.2:n.*2723G>A | |
| ENST00000684953.1:n.4741G>A | ||
| ENST00000685090.1:n.4656G>A | ||
| ENST00000688574.1:n.2834G>A | ||
| ENST00000691124.1:n.5687G>A | ||
| ENST00000342988.8:c.*1067G>A MANE Select | ENSP00000341551.3:n.*1067G>A | |
| ENST00000342988.7:c.*1067G>A | ENSP00000341551.3:n.*1067G>A | |
| ENST00000398417.6:c.*1067G>A | ENSP00000381452.1:n.*1067G>A | |
| ENST00000591126.5:n.4727G>A | ||
| NM_005359.5:c.*1067G>A , LRG_318t1:c.*1067G>A | NP_005350.1:n.*1067G>A | |
| NM_005359.6:c.*1067G>A MANE Select | NP_005350.1:n.*1067G>A |