Linked Data
ClinVar Variation Id:
338363
dbSNP Id:
rs201329683
ExAC:
20:3893187 C / T
gnomAD v2:
20-3893187-C-T
gnomAD v3:
20-3912540-C-T
gnomAD v4:
20-3912540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912540C>T , CM000682.2:g.3912540C>T | GRCh38 |
| NC_000020.10:g.3893187C>T , CM000682.1:g.3893187C>T | GRCh37 |
| NC_000020.9:g.3841187C>T | NCBI36 |
| NG_008131.3:g.28702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.988C>T MANE Select | ENSP00000477429.2:p.Arg330Cys | |
| ENST00000316562.9:c.1318C>T | ENSP00000313377.4:p.Arg440Cys | |
| ENST00000336066.8:c.*329C>T | ENSP00000477229.2:n.*329C>T | |
| ENST00000610179.6:c.988C>T | ENSP00000477429.2:p.Arg330Cys | |
| ENST00000643504.2:c.*618C>T | ENSP00000495157.2:n.*618C>T | |
| ENST00000646394.1:c.815C>T | ||
| ENST00000316562.8:c.1318C>T | ENSP00000313377.4:p.Arg440Cys | |
| ENST00000336066.7:c.*329C>T | ENSP00000477229.1:n.*329C>T | |
| ENST00000464452.1:n.553C>T | ||
| ENST00000495692.5:c.10C>T | ENSP00000476745.1:p.Arg4Cys | |
| ENST00000497424.5:c.445C>T | ENSP00000417609.1:p.Arg149Cys | |
| ENST00000610179.5:c.949C>T | ENSP00000477429.1:p.Arg317Cys | |
| ENST00000621507.1:c.445C>T | ENSP00000481523.1:p.Arg149Cys | |
| NM_024960.4:c.445C>T | NP_079236.3:p.Arg149Cys | |
| NM_153638.2:c.1318C>T | NP_705902.2:p.Arg440Cys | |
| NM_153640.2:c.445C>T | NP_705904.1:p.Arg149Cys | |
| XM_005260835.2:c.703C>T | XP_005260892.1:p.Arg235Cys | |
| XM_005260836.3:c.445C>T | XP_005260893.3:p.Arg149Cys | |
| XM_006723631.1:c.445C>T | XP_006723694.1:p.Arg149Cys | |
| XM_011529364.1:c.1235+1710C>T | XP_011527666.1:n.1235+1710C>T | |
| NM_001324191.1:c.445C>T | NP_001311120.1:p.Arg149Cys | |
| NM_001324193.1:c.10C>T | NP_001311122.1:p.Arg4Cys | |
| NM_024960.5:c.445C>T | NP_079236.3:p.Arg149Cys | |
| NM_153638.3:c.1318C>T | NP_705902.2:p.Arg440Cys | |
| NM_153640.3:c.445C>T | NP_705904.1:p.Arg149Cys | |
| NR_136715.1:n.1342C>T | ||
| XM_005260835.3:c.703C>T | XP_005260892.1:p.Arg235Cys | |
| XM_005260836.4:c.445C>T | XP_005260893.3:p.Arg149Cys | |
| XM_011529364.3:c.1235+1710C>T | XP_011527666.1:n.1235+1710C>T | |
| XM_017028077.2:c.10C>T | XP_016883566.1:p.Arg4Cys | |
| XM_017028078.2:c.10C>T | XP_016883567.1:p.Arg4Cys | |
| XM_017028079.2:c.10C>T | XP_016883568.1:p.Arg4Cys | |
| XM_024452002.1:c.10C>T | XP_024307770.1:p.Arg4Cys | |
| XR_002958533.1:n.2106C>T | ||
| NM_001324191.2:c.445C>T | NP_001311120.1:p.Arg149Cys | |
| NM_001324193.2:c.10C>T | NP_001311122.1:p.Arg4Cys | |
| NM_024960.6:c.445C>T | NP_079236.3:p.Arg149Cys | |
| NR_136715.2:n.889C>T | ||
| NM_001386393.1:c.988C>T MANE Select | NP_001373322.1:p.Arg330Cys | |
| NM_153638.4:c.1318C>T | NP_705902.2:p.Arg440Cys | |
| NM_153640.4:c.445C>T | NP_705904.1:p.Arg149Cys |