Linked Data
ClinVar Variation Id:
818396
ClinVar RCV Id:
RCV002318911
dbSNP Id:
rs1568208287
MyVariant Identifiers:
chr18:g.48591968G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065598G>A , CM000680.2:g.51065598G>A | GRCh38 |
| NC_000018.9:g.48591968G>A , CM000680.1:g.48591968G>A | GRCh37 |
| NC_000018.8:g.46845966G>A | NCBI36 |
| NG_013013.2:g.102559G>A , LRG_318:g.102559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1131G>A | ENSP00000465878.2:p.Glu377= | |
| ENST00000589076.6:c.1131G>A | ENSP00000466934.2:p.Glu377= | |
| ENST00000589941.2:c.1131G>A | ENSP00000465874.2:p.Glu377= | |
| ENST00000590061.2:c.1131G>A | ENSP00000464772.2:p.Glu377= | |
| ENST00000593223.2:c.1131G>A | ENSP00000466118.2:p.Glu377= | |
| ENST00000611848.2:c.1131G>A | ENSP00000478613.2:p.Glu377= | |
| ENST00000684953.1:n.2503G>A | ||
| ENST00000685090.1:n.1582G>A | ||
| ENST00000685232.1:n.1239G>A | ||
| ENST00000688307.1:n.382G>A | ||
| ENST00000688574.1:n.1239G>A | ||
| ENST00000688903.1:n.1345G>A | ||
| ENST00000691124.1:n.2613G>A | ||
| ENST00000342988.8:c.1131G>A MANE Select | ENSP00000341551.3:p.Glu377= | |
| ENST00000342988.7:c.1131G>A | ENSP00000341551.3:p.Glu377= | |
| ENST00000398417.6:c.1131G>A | ENSP00000381452.1:p.Glu377= | |
| ENST00000588745.5:c.843G>A | ENSP00000464901.1:p.Glu281= | |
| ENST00000591126.5:n.3132G>A | ||
| ENST00000592186.5:c.955+5682G>A | ENSP00000468611.1:n.955+5682G>A | |
| ENST00000611848.1:c.331G>A | ||
| NM_005359.5:c.1131G>A , LRG_318t1:c.1131G>A | NP_005350.1:p.Glu377= | |
| NM_005359.6:c.1131G>A MANE Select | NP_005350.1:p.Glu377= |