Linked Data
ClinVar Variation Id:
748131
ClinVar RCV Id:
RCV001498424
dbSNP Id:
rs769125787
gnomAD v4:
1-40074142-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074142T>C , CM000663.2:g.40074142T>C | GRCh38 |
| NC_000001.10:g.40539814T>C , CM000663.1:g.40539814T>C | GRCh37 |
| NC_000001.9:g.40312401T>C | NCBI36 |
| NG_009192.1:g.28329A>G , LRG_690:g.28329A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.837A>G | ENSP00000394863.4:p.Leu279= | |
| ENST00000439754.6:c.768A>G | ENSP00000403207.2:p.Leu256= | |
| ENST00000449045.7:c.531A>G | ENSP00000392293.2:p.Leu177= | |
| ENST00000527311.7:c.609A>G | ENSP00000436695.3:p.Leu203= | |
| ENST00000530076.6:c.183A>G | ENSP00000434007.1:p.Leu61= | |
| ENST00000530704.6:c.*463A>G | ENSP00000431655.1:n.*463A>G | |
| ENST00000641083.1:c.930A>G | ||
| ENST00000641236.1:n.1077A>G | ||
| ENST00000641319.1:c.*50A>G | ENSP00000493128.1:n.*50A>G | |
| ENST00000641381.1:c.262A>G | ||
| ENST00000641471.1:c.927A>G | ENSP00000493146.1:p.Leu309= | |
| ENST00000641691.1:c.*692A>G | ENSP00000492910.1:n.*692A>G | |
| ENST00000641924.1:c.*269A>G | ENSP00000493063.1:n.*269A>G | |
| ENST00000642050.2:c.840A>G MANE Select | ENSP00000493153.1:p.Leu280= | |
| ENST00000372775.2:n.237A>G | ||
| ENST00000433473.7:c.840A>G | ENSP00000394863.3:p.Leu280= | |
| ENST00000439754.5:c.453A>G | ENSP00000403207.1:p.Leu151= | |
| ENST00000449045.6:c.531A>G | ENSP00000392293.2:p.Leu177= | |
| ENST00000529905.5:c.840A>G | ENSP00000432053.1:p.Leu280= | |
| ENST00000530076.5:c.183A>G | ENSP00000434007.1:p.Leu61= | |
| ENST00000530704.5:c.*463A>G | ENSP00000431655.1:n.*463A>G | |
| NM_000310.3:c.840A>G , LRG_690t1:c.840A>G | NP_000301.1:p.Leu280= | |
| NM_001142604.1:c.531A>G | NP_001136076.1:p.Leu177= | |
| XM_005271008.1:c.768A>G | XP_005271065.1:p.Leu256= | |
| NM_001363695.1:c.768A>G | NP_001350624.1:p.Leu256= | |
| NM_000310.4:c.840A>G MANE Select | NP_000301.1:p.Leu280= | |
| NM_001142604.2:c.531A>G | NP_001136076.1:p.Leu177= | |
| NM_001363695.2:c.768A>G | NP_001350624.1:p.Leu256= |