Linked Data
ClinVar Variation Id:
1400941
dbSNP Id:
rs775402028
ExAC:
1:40539830 T / A
gnomAD v2:
1-40539830-T-A
gnomAD v4:
1-40074158-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074158T>A , CM000663.2:g.40074158T>A | GRCh38 |
| NC_000001.10:g.40539830T>A , CM000663.1:g.40539830T>A | GRCh37 |
| NC_000001.9:g.40312417T>A | NCBI36 |
| NG_009192.1:g.28313A>T , LRG_690:g.28313A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.821A>T | ENSP00000394863.4:p.Asp274Val | |
| ENST00000439754.6:c.752A>T | ENSP00000403207.2:p.Asp251Val | |
| ENST00000449045.7:c.515A>T | ENSP00000392293.2:p.Asp172Val | |
| ENST00000527311.7:c.593A>T | ENSP00000436695.3:p.Asp198Val | |
| ENST00000530076.6:c.167A>T | ENSP00000434007.1:p.Asp56Val | |
| ENST00000530704.6:c.*447A>T | ENSP00000431655.1:n.*447A>T | |
| ENST00000641083.1:c.914A>T | ||
| ENST00000641236.1:n.1061A>T | ||
| ENST00000641319.1:c.*34A>T | ENSP00000493128.1:n.*34A>T | |
| ENST00000641381.1:c.246A>T | ||
| ENST00000641471.1:c.911A>T | ENSP00000493146.1:p.Asp304Val | |
| ENST00000641691.1:c.*676A>T | ENSP00000492910.1:n.*676A>T | |
| ENST00000641924.1:c.*253A>T | ENSP00000493063.1:n.*253A>T | |
| ENST00000642050.2:c.824A>T MANE Select | ENSP00000493153.1:p.Asp275Val | |
| ENST00000372775.2:n.221A>T | ||
| ENST00000433473.7:c.824A>T | ENSP00000394863.3:p.Asp275Val | |
| ENST00000439754.5:c.437A>T | ENSP00000403207.1:p.Asp146Val | |
| ENST00000449045.6:c.515A>T | ENSP00000392293.2:p.Asp172Val | |
| ENST00000527311.6:c.599A>T | ENSP00000436695.2:p.Asp200Val | |
| ENST00000529905.5:c.824A>T | ENSP00000432053.1:p.Asp275Val | |
| ENST00000530076.5:c.167A>T | ENSP00000434007.1:p.Asp56Val | |
| ENST00000530704.5:c.*447A>T | ENSP00000431655.1:n.*447A>T | |
| NM_000310.3:c.824A>T , LRG_690t1:c.824A>T | NP_000301.1:p.Asp275Val | |
| NM_001142604.1:c.515A>T | NP_001136076.1:p.Asp172Val | |
| XM_005271008.1:c.752A>T | XP_005271065.1:p.Asp251Val | |
| NM_001363695.1:c.752A>T | NP_001350624.1:p.Asp251Val | |
| NM_000310.4:c.824A>T MANE Select | NP_000301.1:p.Asp275Val | |
| NM_001142604.2:c.515A>T | NP_001136076.1:p.Asp172Val | |
| NM_001363695.2:c.752A>T | NP_001350624.1:p.Asp251Val |