Linked Data
ClinVar Variation Id:
200879
dbSNP Id:
rs794728553
gnomAD v3:
11-2445441-G-A
gnomAD v4:
11-2445441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445441G>A , CM000673.2:g.2445441G>A | GRCh38 |
| NC_000011.9:g.2466671G>A , CM000673.1:g.2466671G>A | GRCh37 |
| NC_000011.8:g.2423247G>A | NCBI36 |
| NG_008935.1:g.5451G>A , LRG_287:g.5451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.82G>A | ENSP00000434560.2:p.Glu28Lys | |
| ENST00000646564.2:c.343G>A | ENSP00000495806.2:p.Glu115Lys | |
| ENST00000155840.12:c.343G>A MANE Select | ENSP00000155840.2:p.Glu115Lys | |
| ENST00000155840.9:c.343G>A | ENSP00000155840.2:p.Glu115Lys | |
| ENST00000345015.4:n.120G>A | ||
| ENST00000496887.6:c.82G>A | ENSP00000434560.1:p.Glu28Lys | |
| NM_000218.2:c.343G>A , LRG_287t1:c.343G>A | NP_000209.2:p.Glu115Lys | |
| NM_000218.3:c.343G>A MANE Select | NP_000209.2:p.Glu115Lys |