Linked Data
dbSNP Id:
rs576786638
ExAC:
1:40544248 T / A
gnomAD v2:
1-40544248-T-A
gnomAD v4:
1-40078576-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078576T>A , CM000663.2:g.40078576T>A | GRCh38 |
| NC_000001.10:g.40544248T>A , CM000663.1:g.40544248T>A | GRCh37 |
| NC_000001.9:g.40316835T>A | NCBI36 |
| NG_009192.1:g.23895A>T , LRG_690:g.23895A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.707A>T | ENSP00000394863.4:p.Asp236Val | |
| ENST00000439754.6:c.710A>T | ENSP00000403207.2:p.Asp237Val | |
| ENST00000449045.7:c.401A>T | ENSP00000392293.2:p.Asp134Val | |
| ENST00000527311.7:c.479A>T | ENSP00000436695.3:p.Asp160Val | |
| ENST00000530076.6:c.53A>T | ENSP00000434007.1:p.Asp18Val | |
| ENST00000530704.6:c.*333A>T | ENSP00000431655.1:n.*333A>T | |
| ENST00000641083.1:c.688A>T | ||
| ENST00000641236.1:n.947A>T | ||
| ENST00000641319.1:c.710A>T | ENSP00000493128.1:p.Asp237Val | |
| ENST00000641381.1:c.149-1663A>T | ||
| ENST00000641471.1:c.797A>T | ENSP00000493146.1:p.Asp266Val | |
| ENST00000641691.1:c.*562A>T | ENSP00000492910.1:n.*562A>T | |
| ENST00000641924.1:c.*139A>T | ENSP00000493063.1:n.*139A>T | |
| ENST00000642050.2:c.710A>T MANE Select | ENSP00000493153.1:p.Asp237Val | |
| ENST00000372775.2:n.107A>T | ||
| ENST00000372779.8:c.797A>T | ENSP00000361865.4:p.Asp266Val | |
| ENST00000433473.7:c.710A>T | ENSP00000394863.3:p.Asp237Val | |
| ENST00000439754.5:c.395A>T | ENSP00000403207.1:p.Asp132Val | |
| ENST00000449045.6:c.401A>T | ENSP00000392293.2:p.Asp134Val | |
| ENST00000527311.6:c.485A>T | ENSP00000436695.2:p.Asp162Val | |
| ENST00000529905.5:c.710A>T | ENSP00000432053.1:p.Asp237Val | |
| ENST00000530076.5:c.53A>T | ENSP00000434007.1:p.Asp18Val | |
| ENST00000530704.5:c.*333A>T | ENSP00000431655.1:n.*333A>T | |
| NM_000310.3:c.710A>T , LRG_690t1:c.710A>T | NP_000301.1:p.Asp237Val | |
| NM_001142604.1:c.401A>T | NP_001136076.1:p.Asp134Val | |
| XM_005271008.1:c.710A>T | XP_005271065.1:p.Asp237Val | |
| NM_001363695.1:c.710A>T | NP_001350624.1:p.Asp237Val | |
| NM_000310.4:c.710A>T MANE Select | NP_000301.1:p.Asp237Val | |
| NM_001142604.2:c.401A>T | NP_001136076.1:p.Asp134Val | |
| NM_001363695.2:c.710A>T | NP_001350624.1:p.Asp237Val |