Linked Data
ClinVar Variation Id:
338179
dbSNP Id:
rs17123657
ExAC:
20:31388080 C / T
gnomAD v2:
20-31388080-C-T
gnomAD v3:
20-32800274-C-T
gnomAD v4:
20-32800274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800274C>T , CM000682.2:g.32800274C>T | GRCh38 |
| NC_000020.10:g.31388080C>T , CM000682.1:g.31388080C>T | GRCh37 |
| NC_000020.9:g.30851741C>T | NCBI36 |
| NG_007290.1:g.42890C>T , LRG_56:g.42890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*832C>T | ENSP00000512497.1:n.*832C>T | |
| ENST00000696232.1:c.1881C>T | ENSP00000512498.1:p.Asp627= | |
| ENST00000696233.1:c.*624C>T | ENSP00000512499.1:n.*624C>T | |
| ENST00000696235.1:c.*529C>T | ENSP00000512500.1:n.*529C>T | |
| ENST00000696238.1:c.*624C>T | ENSP00000512502.1:n.*624C>T | |
| ENST00000696239.1:c.1662C>T | ENSP00000512503.1:p.Asp554= | |
| ENST00000201963.3:c.1857C>T | ENSP00000201963.3:p.Asp619= | |
| ENST00000328111.6:c.1881C>T MANE Select | ENSP00000328547.2:p.Asp627= | |
| ENST00000348286.6:c.1821C>T | ENSP00000337764.2:p.Asp607= | |
| ENST00000353855.6:c.1821C>T | ENSP00000313397.4:p.Asp607= | |
| ENST00000443239.7:c.1695C>T | ENSP00000403169.2:p.Asp565= | |
| ENST00000456297.6:c.1593C>T | ENSP00000412305.1:p.Asp531= | |
| NM_001207055.1:c.1695C>T | NP_001193984.1:p.Asp565= | |
| NM_001207056.1:c.1593C>T | NP_001193985.1:p.Asp531= | |
| NM_006892.3:c.1881C>T , LRG_56t1:c.1881C>T | NP_008823.1:p.Asp627= | |
| NM_175848.1:c.1821C>T | NP_787044.1:p.Asp607= | |
| NM_175849.1:c.1821C>T | NP_787045.1:p.Asp607= | |
| NM_175850.2:c.1857C>T | NP_787046.1:p.Asp619= | |
| XM_011528653.1:c.1857C>T | XP_011526955.1:p.Asp619= | |
| XM_011528654.1:c.1731C>T | XP_011526956.1:p.Asp577= | |
| XR_936510.1:n.1848C>T | ||
| XR_936511.1:n.1848C>T | ||
| XR_936512.1:n.1723C>T | ||
| XM_011528653.2:c.1857C>T | XP_011526955.1:p.Asp619= | |
| XM_011528654.2:c.1731C>T | XP_011526956.1:p.Asp577= | |
| XR_936510.2:n.1859C>T | ||
| XR_936511.2:n.1859C>T | ||
| XR_936512.2:n.1735C>T | ||
| NM_001207055.2:c.1695C>T | NP_001193984.1:p.Asp565= | |
| NM_001207056.2:c.1593C>T | NP_001193985.1:p.Asp531= | |
| NM_006892.4:c.1881C>T MANE Select | NP_008823.1:p.Asp627= | |
| NM_175848.2:c.1821C>T | NP_787044.1:p.Asp607= | |
| NM_175849.2:c.1821C>T | NP_787045.1:p.Asp607= | |
| NM_175850.3:c.1857C>T | NP_787046.1:p.Asp619= |