Linked Data
ClinVar Variation Id:
289689
dbSNP Id:
rs201354290
ExAC:
8:27634129 A / G
gnomAD v2:
8-27634129-A-G
gnomAD v3:
8-27776612-A-G
gnomAD v4:
8-27776612-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27776612A>G , CM000670.2:g.27776612A>G | GRCh38 |
| NC_000008.10:g.27634129A>G , CM000670.1:g.27634129A>G | GRCh37 |
| NC_000008.9:g.27690048A>G | NCBI36 |
| NG_008117.1:g.7072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.304A>G MANE Select | ENSP00000306999.8:p.Ile102Val | |
| ENST00000305188.12:c.304A>G | ENSP00000306999.8:p.Ile102Val | |
| ENST00000519637.1:c.304A>G | ENSP00000428027.1:p.Ile102Val | |
| ENST00000522378.5:c.304A>G | ENSP00000428928.1:p.Ile102Val | |
| ENST00000523566.5:c.304A>G | ENSP00000428435.1:p.Ile102Val | |
| ENST00000523910.1:n.103A>G | ||
| ENST00000524293.1:n.322A>G | ||
| NM_001017420.2:c.304A>G | NP_001017420.1:p.Ile102Val | |
| XM_011544421.1:c.304A>G | XP_011542723.1:p.Ile102Val | |
| XM_011544422.1:c.304A>G | XP_011542724.1:p.Ile102Val | |
| XR_949378.1:n.388A>G | ||
| XR_949379.1:n.388A>G | ||
| XM_011544421.2:c.304A>G | XP_011542723.1:p.Ile102Val | |
| XM_011544422.2:c.304A>G | XP_011542724.1:p.Ile102Val | |
| XR_949378.3:n.388A>G | ||
| NM_001017420.3:c.304A>G MANE Select | NP_001017420.1:p.Ile102Val |