Linked Data
ClinVar Variation Id:
2072715
dbSNP Id:
rs140395707
ExAC:
20:31375171 C / T
gnomAD v2:
20-31375171-C-T
gnomAD v3:
20-32787365-C-T
gnomAD v4:
20-32787365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32787365C>T , CM000682.2:g.32787365C>T | GRCh38 |
| NC_000020.10:g.31375171C>T , CM000682.1:g.31375171C>T | GRCh37 |
| NC_000020.9:g.30838832C>T | NCBI36 |
| NG_007290.1:g.29981C>T , LRG_56:g.29981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.568C>T | ENSP00000512497.1:p.Arg190Cys | |
| ENST00000696232.1:c.568C>T | ENSP00000512498.1:p.Arg190Cys | |
| ENST00000696233.1:c.568C>T | ENSP00000512499.1:p.Arg190Cys | |
| ENST00000696234.1:n.552C>T | ||
| ENST00000696235.1:c.442C>T | ENSP00000512500.1:p.Arg148Cys | |
| ENST00000696236.1:c.442C>T | ENSP00000512501.1:p.Arg148Cys | |
| ENST00000696237.1:n.674C>T | ||
| ENST00000696238.1:c.568C>T | ENSP00000512502.1:p.Arg190Cys | |
| ENST00000696239.1:c.568C>T | ENSP00000512503.1:p.Arg190Cys | |
| ENST00000201963.3:c.604C>T | ENSP00000201963.3:p.Arg202Cys | |
| ENST00000328111.6:c.568C>T MANE Select | ENSP00000328547.2:p.Arg190Cys | |
| ENST00000348286.6:c.568C>T | ENSP00000337764.2:p.Arg190Cys | |
| ENST00000353855.6:c.568C>T | ENSP00000313397.4:p.Arg190Cys | |
| ENST00000443239.7:c.442C>T | ENSP00000403169.2:p.Arg148Cys | |
| ENST00000456297.6:c.340C>T | ENSP00000412305.1:p.Arg114Cys | |
| NM_001207055.1:c.442C>T | NP_001193984.1:p.Arg148Cys | |
| NM_001207056.1:c.340C>T | NP_001193985.1:p.Arg114Cys | |
| NM_006892.3:c.568C>T , LRG_56t1:c.568C>T | NP_008823.1:p.Arg190Cys | |
| NM_175848.1:c.568C>T | NP_787044.1:p.Arg190Cys | |
| NM_175849.1:c.568C>T | NP_787045.1:p.Arg190Cys | |
| NM_175850.2:c.604C>T | NP_787046.1:p.Arg202Cys | |
| XM_011528653.1:c.604C>T | XP_011526955.1:p.Arg202Cys | |
| XM_011528654.1:c.478C>T | XP_011526956.1:p.Arg160Cys | |
| XR_936510.1:n.740C>T | ||
| XR_936511.1:n.740C>T | ||
| XR_936512.1:n.615C>T | ||
| XM_011528653.2:c.604C>T | XP_011526955.1:p.Arg202Cys | |
| XM_011528654.2:c.478C>T | XP_011526956.1:p.Arg160Cys | |
| XR_936510.2:n.751C>T | ||
| XR_936511.2:n.751C>T | ||
| XR_936512.2:n.627C>T | ||
| NM_001207055.2:c.442C>T | NP_001193984.1:p.Arg148Cys | |
| NM_001207056.2:c.340C>T | NP_001193985.1:p.Arg114Cys | |
| NM_006892.4:c.568C>T MANE Select | NP_008823.1:p.Arg190Cys | |
| NM_175848.2:c.568C>T | NP_787044.1:p.Arg190Cys | |
| NM_175849.2:c.568C>T | NP_787045.1:p.Arg190Cys | |
| NM_175850.3:c.604C>T | NP_787046.1:p.Arg202Cys |