Linked Data
ClinVar Variation Id:
427091
dbSNP Id:
rs1085307952
gnomAD v3:
7-66089096-G-A
gnomAD v4:
7-66089096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089096G>A , CM000669.2:g.66089096G>A | GRCh38 |
| NC_000007.13:g.65554083G>A , CM000669.1:g.65554083G>A | GRCh37 |
| NC_000007.12:g.65191518G>A | NCBI36 |
| NG_009288.1:g.18308G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.839G>A MANE Select | ENSP00000307188.9:p.Gly280Glu | |
| ENST00000362000.10:c.644G>A | ENSP00000354710.6:p.Gly215Glu | |
| ENST00000380839.9:c.761G>A | ENSP00000370219.4:p.Gly254Glu | |
| ENST00000395331.4:c.839G>A | ENSP00000378740.3:p.Gly280Glu | |
| ENST00000395332.8:c.839G>A | ENSP00000378741.3:p.Gly280Glu | |
| ENST00000488343.2:c.8G>A | ENSP00000500864.1:p.Gly3Glu | |
| ENST00000671817.1:c.761G>A | ENSP00000500462.1:p.Gly254Glu | |
| ENST00000672498.1:c.*138G>A | ENSP00000500227.1:n.*138G>A | |
| ENST00000672586.1:n.1598G>A | ||
| ENST00000672676.1:n.1863G>A | ||
| ENST00000673149.1:n.651G>A | ||
| ENST00000673350.1:n.2956G>A | ||
| ENST00000673518.1:c.761G>A | ENSP00000499889.1:p.Gly254Glu | |
| ENST00000304874.13:c.839G>A | ENSP00000307188.9:p.Gly280Glu | |
| ENST00000362000.9:c.644G>A | ENSP00000354710.5:p.Gly215Glu | |
| ENST00000380839.8:c.761G>A | ENSP00000370219.4:p.Gly254Glu | |
| ENST00000395331.3:c.839G>A | ENSP00000378740.3:p.Gly280Glu | |
| ENST00000395332.7:c.839G>A | ENSP00000378741.3:p.Gly280Glu | |
| ENST00000450043.2:c.152G>A | ENSP00000396527.2:p.Gly51Glu | |
| ENST00000488343.1:n.8G>A | ||
| ENST00000493708.5:n.220G>A | ||
| NM_000048.3:c.839G>A | NP_000039.2:p.Gly280Glu | |
| NM_001024943.1:c.839G>A | NP_001020114.1:p.Gly280Glu | |
| NM_001024944.1:c.839G>A | NP_001020115.1:p.Gly280Glu | |
| NM_001024946.1:c.761G>A | NP_001020117.1:p.Gly254Glu | |
| NM_000048.4:c.839G>A MANE Select | NP_000039.2:p.Gly280Glu | |
| NM_001024943.2:c.839G>A | NP_001020114.1:p.Gly280Glu | |
| NM_001024944.2:c.839G>A | NP_001020115.1:p.Gly280Glu | |
| NM_001024946.2:c.761G>A | NP_001020117.1:p.Gly254Glu |