Linked Data
ClinVar Variation Id:
423264
dbSNP Id:
rs145632647
ExAC:
20:31379479 G / A
gnomAD v2:
20-31379479-G-A
gnomAD v3:
20-32791673-G-A
gnomAD v4:
20-32791673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32791673G>A , CM000682.2:g.32791673G>A | GRCh38 |
| NC_000020.10:g.31379479G>A , CM000682.1:g.31379479G>A | GRCh37 |
| NC_000020.9:g.30843140G>A | NCBI36 |
| NG_007290.1:g.34289G>A , LRG_56:g.34289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.886G>A | ENSP00000512497.1:p.Val296Ile | |
| ENST00000696232.1:c.886G>A | ENSP00000512498.1:p.Val296Ile | |
| ENST00000696233.1:c.886G>A | ENSP00000512499.1:p.Val296Ile | |
| ENST00000696234.1:n.870G>A | ||
| ENST00000696235.1:c.760G>A | ENSP00000512500.1:p.Val254Ile | |
| ENST00000696236.1:c.760G>A | ENSP00000512501.1:p.Val254Ile | |
| ENST00000696238.1:c.886G>A | ENSP00000512502.1:p.Val296Ile | |
| ENST00000696239.1:c.727G>A | ENSP00000512503.1:p.Val243Ile | |
| ENST00000696240.1:n.188G>A | ||
| ENST00000201963.3:c.922G>A | ENSP00000201963.3:p.Val308Ile | |
| ENST00000328111.6:c.886G>A MANE Select | ENSP00000328547.2:p.Val296Ile | |
| ENST00000348286.6:c.886G>A | ENSP00000337764.2:p.Val296Ile | |
| ENST00000353855.6:c.886G>A | ENSP00000313397.4:p.Val296Ile | |
| ENST00000443239.7:c.760G>A | ENSP00000403169.2:p.Val254Ile | |
| ENST00000456297.6:c.658G>A | ENSP00000412305.1:p.Val220Ile | |
| NM_001207055.1:c.760G>A | NP_001193984.1:p.Val254Ile | |
| NM_001207056.1:c.658G>A | NP_001193985.1:p.Val220Ile | |
| NM_006892.3:c.886G>A , LRG_56t1:c.886G>A | NP_008823.1:p.Val296Ile | |
| NM_175848.1:c.886G>A | NP_787044.1:p.Val296Ile | |
| NM_175849.1:c.886G>A | NP_787045.1:p.Val296Ile | |
| NM_175850.2:c.922G>A | NP_787046.1:p.Val308Ile | |
| XM_011528653.1:c.922G>A | XP_011526955.1:p.Val308Ile | |
| XM_011528654.1:c.796G>A | XP_011526956.1:p.Val266Ile | |
| XR_936510.1:n.1058G>A | ||
| XR_936511.1:n.1058G>A | ||
| XR_936512.1:n.933G>A | ||
| XM_011528653.2:c.922G>A | XP_011526955.1:p.Val308Ile | |
| XM_011528654.2:c.796G>A | XP_011526956.1:p.Val266Ile | |
| XR_936510.2:n.1069G>A | ||
| XR_936511.2:n.1069G>A | ||
| XR_936512.2:n.945G>A | ||
| NM_001207055.2:c.760G>A | NP_001193984.1:p.Val254Ile | |
| NM_001207056.2:c.658G>A | NP_001193985.1:p.Val220Ile | |
| NM_006892.4:c.886G>A MANE Select | NP_008823.1:p.Val296Ile | |
| NM_175848.2:c.886G>A | NP_787044.1:p.Val296Ile | |
| NM_175849.2:c.886G>A | NP_787045.1:p.Val296Ile | |
| NM_175850.3:c.922G>A | NP_787046.1:p.Val308Ile |