Linked Data
ClinVar Variation Id:
461480
dbSNP Id:
rs150682895
ExAC:
20:31383238 G / A
gnomAD v2:
20-31383238-G-A
gnomAD v3:
20-32795432-G-A
gnomAD v4:
20-32795432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32795432G>A , CM000682.2:g.32795432G>A | GRCh38 |
| NC_000020.10:g.31383238G>A , CM000682.1:g.31383238G>A | GRCh37 |
| NC_000020.9:g.30846899G>A | NCBI36 |
| NG_007290.1:g.38048G>A , LRG_56:g.38048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*101G>A | ENSP00000512497.1:n.*101G>A | |
| ENST00000696232.1:c.1150G>A | ENSP00000512498.1:p.Ala384Thr | |
| ENST00000696233.1:c.1090G>A | ENSP00000512499.1:p.Ala364Thr | |
| ENST00000696235.1:c.819G>A | ENSP00000512500.1:p.Gln273= | |
| ENST00000696236.1:c.*101G>A | ENSP00000512501.1:n.*101G>A | |
| ENST00000696238.1:c.1090G>A | ENSP00000512502.1:p.Ala364Thr | |
| ENST00000696239.1:c.931G>A | ENSP00000512503.1:p.Ala311Thr | |
| ENST00000696241.1:n.439G>A | ||
| ENST00000696242.1:n.292G>A | ||
| ENST00000696243.1:n.14G>A | ||
| ENST00000201963.3:c.1126G>A | ENSP00000201963.3:p.Ala376Thr | |
| ENST00000328111.6:c.1150G>A MANE Select | ENSP00000328547.2:p.Ala384Thr | |
| ENST00000348286.6:c.1090G>A | ENSP00000337764.2:p.Ala364Thr | |
| ENST00000353855.6:c.1090G>A | ENSP00000313397.4:p.Ala364Thr | |
| ENST00000443239.7:c.964G>A | ENSP00000403169.2:p.Ala322Thr | |
| ENST00000456297.6:c.862G>A | ENSP00000412305.1:p.Ala288Thr | |
| NM_001207055.1:c.964G>A | NP_001193984.1:p.Ala322Thr | |
| NM_001207056.1:c.862G>A | NP_001193985.1:p.Ala288Thr | |
| NM_006892.3:c.1150G>A , LRG_56t1:c.1150G>A | NP_008823.1:p.Ala384Thr | |
| NM_175848.1:c.1090G>A | NP_787044.1:p.Ala364Thr | |
| NM_175849.1:c.1090G>A | NP_787045.1:p.Ala364Thr | |
| NM_175850.2:c.1126G>A | NP_787046.1:p.Ala376Thr | |
| XM_011528653.1:c.1126G>A | XP_011526955.1:p.Ala376Thr | |
| XM_011528654.1:c.1000G>A | XP_011526956.1:p.Ala334Thr | |
| XR_936510.1:n.1117G>A | ||
| XR_936511.1:n.1117G>A | ||
| XR_936512.1:n.992G>A | ||
| XM_011528653.2:c.1126G>A | XP_011526955.1:p.Ala376Thr | |
| XM_011528654.2:c.1000G>A | XP_011526956.1:p.Ala334Thr | |
| XR_936510.2:n.1128G>A | ||
| XR_936511.2:n.1128G>A | ||
| XR_936512.2:n.1004G>A | ||
| NM_001207055.2:c.964G>A | NP_001193984.1:p.Ala322Thr | |
| NM_001207056.2:c.862G>A | NP_001193985.1:p.Ala288Thr | |
| NM_006892.4:c.1150G>A MANE Select | NP_008823.1:p.Ala384Thr | |
| NM_175848.2:c.1090G>A | NP_787044.1:p.Ala364Thr | |
| NM_175849.2:c.1090G>A | NP_787045.1:p.Ala364Thr | |
| NM_175850.3:c.1126G>A | NP_787046.1:p.Ala376Thr |