Linked Data
ClinVar Variation Id:
4551
ClinVar RCV Id:
RCV000004811
dbSNP Id:
rs137852962
ExAC:
20:3888800 C / T
gnomAD v2:
20-3888800-C-T
gnomAD v3:
20-3908153-C-T
gnomAD v4:
20-3908153-C-T
PubMed:
PMID:11479594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3908153C>T , CM000682.2:g.3908153C>T | GRCh38 |
| NC_000020.10:g.3888800C>T , CM000682.1:g.3888800C>T | GRCh37 |
| NC_000020.9:g.3836800C>T | NCBI36 |
| NG_008131.3:g.24315C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610179.7:c.526C>T MANE Select | ENSP00000477429.2:p.Arg176Cys | |
| ENST00000316562.9:c.856C>T | ENSP00000313377.4:p.Arg286Cys | |
| ENST00000336066.8:c.508+18C>T | ENSP00000477229.2:n.508+18C>T | |
| ENST00000610179.6:c.526C>T | ENSP00000477429.2:p.Arg176Cys | |
| ENST00000643504.2:c.*281+18C>T | ENSP00000495157.2:n.*281+18C>T | |
| ENST00000646394.1:c.353C>T | ||
| ENST00000316562.8:c.856C>T | ENSP00000313377.4:p.Arg286Cys | |
| ENST00000336066.7:c.469+18C>T | ENSP00000477229.1:n.469+18C>T | |
| ENST00000471830.1:n.382+18C>T | ||
| ENST00000495692.5:c.-328+18C>T | ENSP00000476745.1:n.-328+18C>T | |
| ENST00000497424.5:c.-18C>T | ENSP00000417609.1:n.-18C>T | |
| ENST00000610179.5:c.487C>T | ENSP00000477429.1:p.Arg163Cys | |
| ENST00000621507.1:c.-18C>T | ENSP00000481523.1:n.-18C>T | |
| NM_024960.4:c.-18C>T | NP_079236.3:n.-18C>T | |
| NM_153638.2:c.856C>T | NP_705902.2:p.Arg286Cys | |
| NM_153640.2:c.-18C>T | NP_705904.1:n.-18C>T | |
| XM_005260835.2:c.241C>T | XP_005260892.1:p.Arg81Cys | |
| XM_005260836.3:c.-18C>T | XP_005260893.3:n.-18C>T | |
| XM_006723631.1:c.-18C>T | XP_006723694.1:n.-18C>T | |
| XM_011529364.1:c.856C>T | XP_011527666.1:p.Arg286Cys | |
| XM_011529365.1:c.838+18C>T | XP_011527667.1:n.838+18C>T | |
| NM_001324191.1:c.-18C>T | NP_001311120.1:n.-18C>T | |
| NM_001324192.1:c.856C>T | NP_001311121.1:p.Arg286Cys | |
| NM_001324193.1:c.-328+18C>T | NP_001311122.1:n.-328+18C>T | |
| NM_024960.5:c.-18C>T | NP_079236.3:n.-18C>T | |
| NM_153638.3:c.856C>T | NP_705902.2:p.Arg286Cys | |
| NM_153640.3:c.-18C>T | NP_705904.1:n.-18C>T | |
| NR_136715.1:n.1005+18C>T | ||
| XM_005260835.3:c.241C>T | XP_005260892.1:p.Arg81Cys | |
| XM_005260836.4:c.-18C>T | XP_005260893.3:n.-18C>T | |
| XM_011529364.3:c.856C>T | XP_011527666.1:p.Arg286Cys | |
| XM_011529365.2:c.838+18C>T | XP_011527667.1:n.838+18C>T | |
| XM_017028077.2:c.-328+18C>T | XP_016883566.1:n.-328+18C>T | |
| XM_017028078.2:c.-328+18C>T | XP_016883567.1:n.-328+18C>T | |
| XM_017028079.2:c.-328+18C>T | XP_016883568.1:n.-328+18C>T | |
| XM_024452002.1:c.-328+18C>T | XP_024307770.1:n.-328+18C>T | |
| XR_002958533.1:n.1017C>T | ||
| NM_001324191.2:c.-18C>T | NP_001311120.1:n.-18C>T | |
| NM_001324193.2:c.-328+18C>T | NP_001311122.1:n.-328+18C>T | |
| NM_024960.6:c.-18C>T | NP_079236.3:n.-18C>T | |
| NR_136715.2:n.552+18C>T | ||
| NM_001386393.1:c.526C>T MANE Select | NP_001373322.1:p.Arg176Cys | |
| NM_153638.4:c.856C>T | NP_705902.2:p.Arg286Cys | |
| NM_153640.4:c.-18C>T | NP_705904.1:n.-18C>T |