Linked Data
ClinVar Variation Id:
199009
dbSNP Id:
rs146902902
ExAC:
1:40539750 T / C
gnomAD v2:
1-40539750-T-C
gnomAD v3:
1-40074078-T-C
gnomAD v4:
1-40074078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074078T>C , CM000663.2:g.40074078T>C | GRCh38 |
| NC_000001.10:g.40539750T>C , CM000663.1:g.40539750T>C | GRCh37 |
| NC_000001.9:g.40312337T>C | NCBI36 |
| NG_009192.1:g.28393A>G , LRG_690:g.28393A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.901A>G | ENSP00000394863.4:p.Ile301Val | |
| ENST00000439754.6:c.832A>G | ENSP00000403207.2:p.Ile278Val | |
| ENST00000449045.7:c.595A>G | ENSP00000392293.2:p.Ile199Val | |
| ENST00000530076.6:c.247A>G | ENSP00000434007.1:p.Ile83Val | |
| ENST00000530704.6:c.*527A>G | ENSP00000431655.1:n.*527A>G | |
| ENST00000641083.1:c.994A>G | ||
| ENST00000641236.1:n.1141A>G | ||
| ENST00000641319.1:c.*114A>G | ENSP00000493128.1:n.*114A>G | |
| ENST00000641381.1:c.326A>G | ||
| ENST00000641471.1:c.991A>G | ENSP00000493146.1:p.Ile331Val | |
| ENST00000641691.1:c.*756A>G | ENSP00000492910.1:n.*756A>G | |
| ENST00000641924.1:c.*333A>G | ENSP00000493063.1:n.*333A>G | |
| ENST00000642050.2:c.904A>G MANE Select | ENSP00000493153.1:p.Ile302Val | |
| ENST00000372775.2:n.301A>G | ||
| ENST00000433473.7:c.904A>G | ENSP00000394863.3:p.Ile302Val | |
| ENST00000439754.5:c.517A>G | ENSP00000403207.1:p.Ile173Val | |
| ENST00000449045.6:c.595A>G | ENSP00000392293.2:p.Ile199Val | |
| ENST00000529905.5:c.904A>G | ENSP00000432053.1:p.Ile302Val | |
| ENST00000530076.5:c.247A>G | ENSP00000434007.1:p.Ile83Val | |
| ENST00000530704.5:c.*527A>G | ENSP00000431655.1:n.*527A>G | |
| NM_000310.3:c.904A>G , LRG_690t1:c.904A>G | NP_000301.1:p.Ile302Val | |
| NM_001142604.1:c.595A>G | NP_001136076.1:p.Ile199Val | |
| XM_005271008.1:c.832A>G | XP_005271065.1:p.Ile278Val | |
| NM_001363695.1:c.832A>G | NP_001350624.1:p.Ile278Val | |
| NM_000310.4:c.904A>G MANE Select | NP_000301.1:p.Ile302Val | |
| NM_001142604.2:c.595A>G | NP_001136076.1:p.Ile199Val | |
| NM_001363695.2:c.832A>G | NP_001350624.1:p.Ile278Val |