Linked Data
ClinVar Variation Id:
852560
dbSNP Id:
rs1416330878
gnomAD v3:
1-55039955-G-A
gnomAD v4:
1-55039955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039955G>A , CM000663.2:g.55039955G>A | GRCh38 |
| NC_000001.10:g.55505628G>A , CM000663.1:g.55505628G>A | GRCh37 |
| NC_000001.9:g.55278216G>A | NCBI36 |
| NG_009061.1:g.5409G>A , LRG_275:g.5409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.118G>A | ENSP00000501161.2:p.Glu40Lys | |
| ENST00000710286.1:c.475G>A | ENSP00000518176.1:p.Glu159Lys | |
| ENST00000673726.1:c.118G>A | ENSP00000501004.1:p.Glu40Lys | |
| ENST00000302118.5:c.118G>A MANE Select | ENSP00000303208.5:p.Glu40Lys | |
| NM_174936.3:c.118G>A , LRG_275t1:c.118G>A | NP_777596.2:p.Glu40Lys | |
| NM_174936.4:c.118G>A MANE Select | NP_777596.2:p.Glu40Lys |