Linked Data
ClinVar Variation Id:
805318
ClinVar RCV Id:
RCV000992820
dbSNP Id:
rs1599943390
gnomAD v4:
19-53889964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889964G>A , CM000681.2:g.53889964G>A | GRCh38 |
| NC_000019.9:g.54393218G>A , CM000681.1:g.54393218G>A | GRCh37 |
| NC_000019.8:g.59085030G>A | NCBI36 |
| NG_009114.1:g.12752G>A , LRG_669:g.12752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.476G>A | ENSP00000507230.1:p.Gly159Glu | |
| ENST00000682268.1:n.774G>A | ||
| ENST00000682902.1:n.778G>A | ||
| ENST00000683513.1:c.476G>A | ENSP00000506809.1:p.Gly159Glu | |
| ENST00000263431.4:c.476G>A MANE Select | ENSP00000263431.3:p.Gly159Glu | |
| ENST00000263431.3:c.476G>A | ENSP00000263431.3:p.Gly159Glu | |
| ENST00000419486.1:c.92G>A | ENSP00000387919.2:p.Gly31Glu | |
| ENST00000474397.5:c.92G>A | ENSP00000471271.1:p.Gly31Glu | |
| NM_001316329.1:c.476G>A | NP_001303258.1:p.Gly159Glu | |
| NM_002739.3:c.476G>A , LRG_669t1:c.476G>A | NP_002730.1:p.Gly159Glu | |
| NM_002739.4:c.476G>A | NP_002730.1:p.Gly159Glu | |
| NM_002739.5:c.476G>A MANE Select | NP_002730.1:p.Gly159Glu | |
| NM_001316329.2:c.476G>A | NP_001303258.1:p.Gly159Glu |