Linked Data
ClinVar Variation Id:
789436
dbSNP Id:
rs35764859
ExAC:
1:231125863 G / A
gnomAD v2:
1-231125863-G-A
gnomAD v3:
1-230990117-G-A
gnomAD v4:
1-230990117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230990117G>A , CM000663.2:g.230990117G>A | GRCh38 |
| NC_000001.10:g.231125863G>A , CM000663.1:g.231125863G>A | GRCh37 |
| NC_000001.9:g.229192486G>A | NCBI36 |
| NG_052022.1:g.16069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310256.7:c.302G>A MANE Select | ENSP00000312458.2:p.Gly101Glu | |
| ENST00000310256.6:c.302G>A | ENSP00000312458.2:p.Gly101Glu | |
| ENST00000366658.6:c.182G>A | ENSP00000355618.2:p.Gly61Glu | |
| ENST00000435927.5:c.262G>A | ||
| ENST00000450711.5:c.292G>A | ||
| ENST00000480519.5:c.230G>A | ENSP00000436763.1:p.Gly77Glu | |
| ENST00000497753.1:n.667G>A | ||
| NM_022786.1:c.302G>A | NP_073623.1:p.Gly101Glu | |
| XR_949154.1:n.333G>A | ||
| NM_001346992.1:c.302G>A | NP_001333921.1:p.Gly101Glu | |
| NM_022786.2:c.302G>A | NP_073623.1:p.Gly101Glu | |
| NR_144538.1:n.359G>A | ||
| XM_024449202.1:c.302G>A | XP_024304970.1:p.Gly101Glu | |
| XR_002957381.1:n.326G>A | ||
| NM_022786.3:c.302G>A MANE Select | NP_073623.1:p.Gly101Glu | |
| NM_001346992.2:c.302G>A | NP_001333921.1:p.Gly101Glu | |
| NR_144538.2:n.314G>A |