Linked Data
ClinVar Variation Id:
1698493
ClinVar RCV Id:
RCV002271770
dbSNP Id:
rs891322948
gnomAD v4:
1-55059529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059529G>A , CM000663.2:g.55059529G>A | GRCh38 |
| NC_000001.10:g.55525202G>A , CM000663.1:g.55525202G>A | GRCh37 |
| NC_000001.9:g.55297790G>A | NCBI36 |
| NG_009061.1:g.24983G>A , LRG_275:g.24983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1547G>A | ENSP00000501161.2:p.Gly516Glu | |
| ENST00000710286.1:c.1904G>A | ENSP00000518176.1:p.Gly635Glu | |
| ENST00000673903.1:c.1172G>A | ENSP00000501257.1:p.Gly391Glu | |
| ENST00000673913.1:c.287G>A | ENSP00000501161.1:p.Gly96Glu | |
| ENST00000302118.5:c.1547G>A MANE Select | ENSP00000303208.5:p.Gly516Glu | |
| ENST00000490692.1:n.2227+882G>A | ||
| NM_174936.3:c.1547G>A , LRG_275t1:c.1547G>A | NP_777596.2:p.Gly516Glu | |
| NR_110451.1:n.1154G>A | ||
| XM_011541193.1:c.668G>A | XP_011539495.1:p.Gly223Glu | |
| NM_174936.4:c.1547G>A MANE Select | NP_777596.2:p.Gly516Glu | |
| NR_110451.2:n.1154G>A |