Linked Data
ClinVar Variation Id:
338163
dbSNP Id:
rs143462810
ExAC:
20:31383299 A / G
gnomAD v2:
20-31383299-A-G
gnomAD v3:
20-32795493-A-G
gnomAD v4:
20-32795493-A-G
PubMed:
PMID:29255178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32795493A>G , CM000682.2:g.32795493A>G | GRCh38 |
| NC_000020.10:g.31383299A>G , CM000682.1:g.31383299A>G | GRCh37 |
| NC_000020.9:g.30846960A>G | NCBI36 |
| NG_007290.1:g.38109A>G , LRG_56:g.38109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*162A>G | ENSP00000512497.1:n.*162A>G | |
| ENST00000696232.1:c.1211A>G | ENSP00000512498.1:p.Tyr404Cys | |
| ENST00000696233.1:c.1151A>G | ENSP00000512499.1:p.Tyr384Cys | |
| ENST00000696235.1:c.880A>G | ENSP00000512500.1:p.Ile294Val | |
| ENST00000696236.1:c.*162A>G | ENSP00000512501.1:n.*162A>G | |
| ENST00000696238.1:c.1151A>G | ENSP00000512502.1:p.Tyr384Cys | |
| ENST00000696239.1:c.992A>G | ENSP00000512503.1:p.Tyr331Cys | |
| ENST00000696241.1:n.500A>G | ||
| ENST00000696242.1:n.353A>G | ||
| ENST00000696243.1:n.75A>G | ||
| ENST00000201963.3:c.1187A>G | ENSP00000201963.3:p.Tyr396Cys | |
| ENST00000328111.6:c.1211A>G MANE Select | ENSP00000328547.2:p.Tyr404Cys | |
| ENST00000348286.6:c.1151A>G | ENSP00000337764.2:p.Tyr384Cys | |
| ENST00000353855.6:c.1151A>G | ENSP00000313397.4:p.Tyr384Cys | |
| ENST00000443239.7:c.1025A>G | ENSP00000403169.2:p.Tyr342Cys | |
| ENST00000456297.6:c.923A>G | ENSP00000412305.1:p.Tyr308Cys | |
| NM_001207055.1:c.1025A>G | NP_001193984.1:p.Tyr342Cys | |
| NM_001207056.1:c.923A>G | NP_001193985.1:p.Tyr308Cys | |
| NM_006892.3:c.1211A>G , LRG_56t1:c.1211A>G | NP_008823.1:p.Tyr404Cys | |
| NM_175848.1:c.1151A>G | NP_787044.1:p.Tyr384Cys | |
| NM_175849.1:c.1151A>G | NP_787045.1:p.Tyr384Cys | |
| NM_175850.2:c.1187A>G | NP_787046.1:p.Tyr396Cys | |
| XM_011528653.1:c.1187A>G | XP_011526955.1:p.Tyr396Cys | |
| XM_011528654.1:c.1061A>G | XP_011526956.1:p.Tyr354Cys | |
| XR_936510.1:n.1178A>G | ||
| XR_936511.1:n.1178A>G | ||
| XR_936512.1:n.1053A>G | ||
| XM_011528653.2:c.1187A>G | XP_011526955.1:p.Tyr396Cys | |
| XM_011528654.2:c.1061A>G | XP_011526956.1:p.Tyr354Cys | |
| XR_936510.2:n.1189A>G | ||
| XR_936511.2:n.1189A>G | ||
| XR_936512.2:n.1065A>G | ||
| NM_001207055.2:c.1025A>G | NP_001193984.1:p.Tyr342Cys | |
| NM_001207056.2:c.923A>G | NP_001193985.1:p.Tyr308Cys | |
| NM_006892.4:c.1211A>G MANE Select | NP_008823.1:p.Tyr404Cys | |
| NM_175848.2:c.1151A>G | NP_787044.1:p.Tyr384Cys | |
| NM_175849.2:c.1151A>G | NP_787045.1:p.Tyr384Cys | |
| NM_175850.3:c.1187A>G | NP_787046.1:p.Tyr396Cys |