Linked Data
ClinVar Variation Id:
1430006
dbSNP Id:
rs1184440065
gnomAD v2:
11-61205247-A-G
gnomAD v3:
11-61437775-A-G
gnomAD v4:
11-61437775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61437775A>G , CM000673.2:g.61437775A>G | GRCh38 |
| NC_000011.9:g.61205247A>G , CM000673.1:g.61205247A>G | GRCh37 |
| NC_000011.8:g.60961823A>G | NCBI36 |
| NG_023393.1:g.12651A>G , LRG_519:g.12651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.187A>G MANE Select | ENSP00000301761.3:p.Ile63Val | |
| ENST00000301761.6:c.187A>G | ENSP00000301761.2:p.Ile63Val | |
| ENST00000359614.9:c.187A>G | ENSP00000352630.5:p.Ile63Val | |
| ENST00000534878.5:c.187A>G | ENSP00000471030.1:p.Ile63Val | |
| ENST00000536250.1:c.*189A>G | ENSP00000471120.1:n.*189A>G | |
| ENST00000536670.5:n.213A>G | ||
| ENST00000537782.5:c.187A>G | ENSP00000469951.1:p.Ile63Val | |
| ENST00000538594.5:c.187A>G | ENSP00000440939.1:p.Ile63Val | |
| ENST00000541135.5:c.187A>G | ENSP00000443130.1:p.Ile63Val | |
| ENST00000542074.1:c.36+7593A>G | ENSP00000469670.1:n.36+7593A>G | |
| ENST00000542794.5:c.*189A>G | ENSP00000439983.1:n.*189A>G | |
| ENST00000543044.2:c.151A>G | ENSP00000440219.1:p.Ile51Val | |
| ENST00000543265.1:c.187A>G | ENSP00000443660.1:p.Ile63Val | |
| ENST00000544025.5:n.282A>G | ||
| ENST00000544801.5:c.187A>G | ENSP00000442581.1:p.Ile63Val | |
| ENST00000544880.1:n.191A>G | ||
| NM_017841.2:c.187A>G , LRG_519t1:c.187A>G | NP_060311.1:p.Ile63Val | |
| NM_017841.4:c.187A>G MANE Select | NP_060311.1:p.Ile63Val |