Linked Data
ClinVar Variation Id:
549766
ClinVar RCV Id:
RCV000664319
dbSNP Id:
rs1555687572
gnomAD v4:
18-51078331-G-A
COSMIC:
COSM4382822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078331G>A , CM000680.2:g.51078331G>A | GRCh38 |
| NC_000018.9:g.48604701G>A , CM000680.1:g.48604701G>A | GRCh37 |
| NC_000018.8:g.46858699G>A | NCBI36 |
| NG_013013.2:g.115292G>A , LRG_318:g.115292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1523G>A | ENSP00000465878.2:p.Gly508Asp | |
| ENST00000589076.6:c.1523G>A | ENSP00000466934.2:p.Gly508Asp | |
| ENST00000589941.2:c.1523G>A | ENSP00000465874.2:p.Gly508Asp | |
| ENST00000590061.2:c.1523G>A | ENSP00000464772.2:p.Gly508Asp | |
| ENST00000593223.2:c.*1520G>A | ENSP00000466118.2:n.*1520G>A | |
| ENST00000611848.2:c.*175G>A | ENSP00000478613.2:n.*175G>A | |
| ENST00000684953.1:n.3538G>A | ||
| ENST00000685090.1:n.3453G>A | ||
| ENST00000685232.1:n.1744G>A | ||
| ENST00000688574.1:n.1631G>A | ||
| ENST00000691124.1:n.4484G>A | ||
| ENST00000342988.8:c.1523G>A MANE Select | ENSP00000341551.3:p.Gly508Asp | |
| ENST00000342988.7:c.1523G>A | ENSP00000341551.3:p.Gly508Asp | |
| ENST00000398417.6:c.1523G>A | ENSP00000381452.1:p.Gly508Asp | |
| ENST00000586253.1:n.245G>A | ||
| ENST00000588745.5:c.1235G>A | ENSP00000464901.1:p.Gly412Asp | |
| ENST00000591126.5:n.3524G>A | ||
| ENST00000592186.5:c.1170G>A | ENSP00000468611.1:n.1170G>A | |
| ENST00000611848.1:c.836G>A | ||
| NM_005359.5:c.1523G>A , LRG_318t1:c.1523G>A | NP_005350.1:p.Gly508Asp | |
| NM_005359.6:c.1523G>A MANE Select | NP_005350.1:p.Gly508Asp |