Linked Data
ClinVar Variation Id:
1059799
ClinVar RCV Id:
RCV001369155
dbSNP Id:
rs774622592
gnomAD v3:
20-32787357-C-G
gnomAD v4:
20-32787357-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32787357C>G , CM000682.2:g.32787357C>G | GRCh38 |
| NC_000020.10:g.31375163C>G , CM000682.1:g.31375163C>G | GRCh37 |
| NC_000020.9:g.30838824C>G | NCBI36 |
| NG_007290.1:g.29973C>G , LRG_56:g.29973C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.560C>G | ENSP00000512497.1:p.Pro187Arg | |
| ENST00000696232.1:c.560C>G | ENSP00000512498.1:p.Pro187Arg | |
| ENST00000696233.1:c.560C>G | ENSP00000512499.1:p.Pro187Arg | |
| ENST00000696234.1:n.544C>G | ||
| ENST00000696235.1:c.434C>G | ENSP00000512500.1:p.Pro145Arg | |
| ENST00000696236.1:c.434C>G | ENSP00000512501.1:p.Pro145Arg | |
| ENST00000696237.1:n.666C>G | ||
| ENST00000696238.1:c.560C>G | ENSP00000512502.1:p.Pro187Arg | |
| ENST00000696239.1:c.560C>G | ENSP00000512503.1:p.Pro187Arg | |
| ENST00000201963.3:c.596C>G | ENSP00000201963.3:p.Pro199Arg | |
| ENST00000328111.6:c.560C>G MANE Select | ENSP00000328547.2:p.Pro187Arg | |
| ENST00000348286.6:c.560C>G | ENSP00000337764.2:p.Pro187Arg | |
| ENST00000353855.6:c.560C>G | ENSP00000313397.4:p.Pro187Arg | |
| ENST00000443239.7:c.434C>G | ENSP00000403169.2:p.Pro145Arg | |
| ENST00000456297.6:c.332C>G | ENSP00000412305.1:p.Pro111Arg | |
| NM_001207055.1:c.434C>G | NP_001193984.1:p.Pro145Arg | |
| NM_001207056.1:c.332C>G | NP_001193985.1:p.Pro111Arg | |
| NM_006892.3:c.560C>G , LRG_56t1:c.560C>G | NP_008823.1:p.Pro187Arg | |
| NM_175848.1:c.560C>G | NP_787044.1:p.Pro187Arg | |
| NM_175849.1:c.560C>G | NP_787045.1:p.Pro187Arg | |
| NM_175850.2:c.596C>G | NP_787046.1:p.Pro199Arg | |
| XM_011528653.1:c.596C>G | XP_011526955.1:p.Pro199Arg | |
| XM_011528654.1:c.470C>G | XP_011526956.1:p.Pro157Arg | |
| XR_936510.1:n.732C>G | ||
| XR_936511.1:n.732C>G | ||
| XR_936512.1:n.607C>G | ||
| XM_011528653.2:c.596C>G | XP_011526955.1:p.Pro199Arg | |
| XM_011528654.2:c.470C>G | XP_011526956.1:p.Pro157Arg | |
| XR_936510.2:n.743C>G | ||
| XR_936511.2:n.743C>G | ||
| XR_936512.2:n.619C>G | ||
| NM_001207055.2:c.434C>G | NP_001193984.1:p.Pro145Arg | |
| NM_001207056.2:c.332C>G | NP_001193985.1:p.Pro111Arg | |
| NM_006892.4:c.560C>G MANE Select | NP_008823.1:p.Pro187Arg | |
| NM_175848.2:c.560C>G | NP_787044.1:p.Pro187Arg | |
| NM_175849.2:c.560C>G | NP_787045.1:p.Pro187Arg | |
| NM_175850.3:c.596C>G | NP_787046.1:p.Pro199Arg |