Linked Data
ClinVar Variation Id:
358569
dbSNP Id:
rs202125745
ExAC:
7:107556126 G / A
gnomAD v2:
7-107556126-G-A
gnomAD v3:
7-107915681-G-A
gnomAD v4:
7-107915681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915681G>A , CM000669.2:g.107915681G>A | GRCh38 |
| NC_000007.13:g.107556126G>A , CM000669.1:g.107556126G>A | GRCh37 |
| NC_000007.12:g.107343362G>A | NCBI36 |
| NG_008045.1:g.29541G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205402.10:c.860G>A MANE Select | ENSP00000205402.3:p.Gly287Glu | |
| ENST00000205402.9:c.860G>A | ENSP00000205402.3:p.Gly287Glu | |
| ENST00000415325.5:c.*534G>A | ENSP00000402593.1:n.*534G>A | |
| ENST00000417551.5:c.860G>A | ENSP00000390667.1:p.Gly287Glu | |
| ENST00000437604.6:c.716G>A | ENSP00000387542.2:p.Gly239Glu | |
| ENST00000440410.5:c.791G>A | ENSP00000417016.1:p.Gly264Glu | |
| NM_000108.4:c.860G>A | NP_000099.2:p.Gly287Glu | |
| NM_001289750.1:c.563G>A | NP_001276679.1:p.Gly188Glu | |
| NM_001289751.1:c.791G>A | NP_001276680.1:p.Gly264Glu | |
| NM_001289752.1:c.716G>A | NP_001276681.1:p.Gly239Glu | |
| NM_000108.5:c.860G>A MANE Select | NP_000099.2:p.Gly287Glu |