Linked Data
dbSNP Id:
rs747479840
ExAC:
20:31375141 A / G
gnomAD v2:
20-31375141-A-G
gnomAD v4:
20-32787335-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32787335A>G , CM000682.2:g.32787335A>G | GRCh38 |
| NC_000020.10:g.31375141A>G , CM000682.1:g.31375141A>G | GRCh37 |
| NC_000020.9:g.30838802A>G | NCBI36 |
| NG_007290.1:g.29951A>G , LRG_56:g.29951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.538A>G | ENSP00000512497.1:p.Thr180Ala | |
| ENST00000696232.1:c.538A>G | ENSP00000512498.1:p.Thr180Ala | |
| ENST00000696233.1:c.538A>G | ENSP00000512499.1:p.Thr180Ala | |
| ENST00000696234.1:n.522A>G | ||
| ENST00000696235.1:c.412A>G | ENSP00000512500.1:p.Thr138Ala | |
| ENST00000696236.1:c.412A>G | ENSP00000512501.1:p.Thr138Ala | |
| ENST00000696237.1:n.644A>G | ||
| ENST00000696238.1:c.538A>G | ENSP00000512502.1:p.Thr180Ala | |
| ENST00000696239.1:c.538A>G | ENSP00000512503.1:p.Thr180Ala | |
| ENST00000201963.3:c.574A>G | ENSP00000201963.3:p.Thr192Ala | |
| ENST00000328111.6:c.538A>G MANE Select | ENSP00000328547.2:p.Thr180Ala | |
| ENST00000348286.6:c.538A>G | ENSP00000337764.2:p.Thr180Ala | |
| ENST00000353855.6:c.538A>G | ENSP00000313397.4:p.Thr180Ala | |
| ENST00000443239.7:c.412A>G | ENSP00000403169.2:p.Thr138Ala | |
| ENST00000456297.6:c.310A>G | ENSP00000412305.1:p.Thr104Ala | |
| NM_001207055.1:c.412A>G | NP_001193984.1:p.Thr138Ala | |
| NM_001207056.1:c.310A>G | NP_001193985.1:p.Thr104Ala | |
| NM_006892.3:c.538A>G , LRG_56t1:c.538A>G | NP_008823.1:p.Thr180Ala | |
| NM_175848.1:c.538A>G | NP_787044.1:p.Thr180Ala | |
| NM_175849.1:c.538A>G | NP_787045.1:p.Thr180Ala | |
| NM_175850.2:c.574A>G | NP_787046.1:p.Thr192Ala | |
| XM_011528653.1:c.574A>G | XP_011526955.1:p.Thr192Ala | |
| XM_011528654.1:c.448A>G | XP_011526956.1:p.Thr150Ala | |
| XR_936510.1:n.710A>G | ||
| XR_936511.1:n.710A>G | ||
| XR_936512.1:n.585A>G | ||
| XM_011528653.2:c.574A>G | XP_011526955.1:p.Thr192Ala | |
| XM_011528654.2:c.448A>G | XP_011526956.1:p.Thr150Ala | |
| XR_936510.2:n.721A>G | ||
| XR_936511.2:n.721A>G | ||
| XR_936512.2:n.597A>G | ||
| NM_001207055.2:c.412A>G | NP_001193984.1:p.Thr138Ala | |
| NM_001207056.2:c.310A>G | NP_001193985.1:p.Thr104Ala | |
| NM_006892.4:c.538A>G MANE Select | NP_008823.1:p.Thr180Ala | |
| NM_175848.2:c.538A>G | NP_787044.1:p.Thr180Ala | |
| NM_175849.2:c.538A>G | NP_787045.1:p.Thr180Ala | |
| NM_175850.3:c.574A>G | NP_787046.1:p.Thr192Ala |