Linked Data
ClinVar Variation Id:
211
ClinVar RCV Id:
RCV003555875
dbSNP Id:
rs121917722
ExAC:
19:33954966 C / T
gnomAD v2:
19-33954966-C-T
gnomAD v4:
19-33464060-C-T
PubMed:
PMID:8900231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33464060C>T , CM000681.2:g.33464060C>T | GRCh38 |
| NC_000019.9:g.33954966C>T , CM000681.1:g.33954966C>T | GRCh37 |
| NC_000019.8:g.38646806C>T | NCBI36 |
| NG_013358.1:g.62834G>A | |
| NG_013358.2:g.62834G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588328.7:c.551G>A | ENSP00000468516.4:p.Arg184Gln | |
| ENST00000651646.2:c.551G>A | ENSP00000498950.2:p.Arg184Gln | |
| ENST00000651901.2:c.551G>A | ENSP00000498922.2:p.Arg184Gln | |
| ENST00000698359.1:c.506G>A | ENSP00000513682.1:p.Arg169Gln | |
| ENST00000698360.1:c.551G>A | ENSP00000513683.1:p.Arg184Gln | |
| ENST00000698361.1:c.551G>A | ENSP00000513684.1:p.Arg184Gln | |
| ENST00000698362.1:c.551G>A | ENSP00000513685.1:p.Arg184Gln | |
| ENST00000698363.1:n.614G>A | ||
| ENST00000698364.1:n.614G>A | ||
| ENST00000698365.1:n.614G>A | ||
| ENST00000698426.1:c.230G>A | ENSP00000513713.1:p.Arg77Gln | |
| ENST00000698427.1:c.593G>A | ENSP00000513714.1:p.Arg198Gln | |
| ENST00000698428.1:c.230G>A | ENSP00000513715.1:p.Arg77Gln | |
| ENST00000698430.1:c.801G>A | ||
| ENST00000698431.1:c.288G>A | ENSP00000513717.1:n.288G>A | |
| ENST00000698432.1:c.360G>A | ||
| ENST00000698435.1:c.239G>A | ENSP00000513719.1:p.Arg80Gln | |
| ENST00000698436.1:c.*163G>A | ENSP00000513720.1:n.*163G>A | |
| ENST00000698437.1:n.534G>A | ||
| ENST00000698438.1:n.533G>A | ||
| ENST00000698439.1:c.408G>A | ENSP00000513721.1:n.408G>A | |
| ENST00000244137.12:c.551G>A MANE Select | ENSP00000244137.5:p.Arg184Gln | |
| ENST00000588328.6:c.540G>A | ||
| ENST00000590731.6:n.226G>A | ||
| ENST00000651646.1:c.549G>A | ||
| ENST00000651901.1:c.547G>A | ||
| ENST00000244137.11:c.551G>A | ENSP00000244137.5:p.Arg184Gln | |
| ENST00000397032.8:c.548+13986G>A | ENSP00000380226.3:n.548+13986G>A | |
| ENST00000436370.7:c.359G>A | ENSP00000391890.2:p.Arg120Gln | |
| ENST00000588328.5:c.42G>A | ||
| ENST00000588719.5:n.186G>A | ||
| ENST00000590408.1:c.269G>A | ||
| ENST00000590731.5:n.226G>A | ||
| ENST00000590755.6:c.378G>A | ENSP00000476667.1:n.378G>A | |
| ENST00000593163.5:n.716G>A | ||
| ENST00000609145.5:c.-17G>A | ENSP00000476514.1:n.-17G>A | |
| NM_000285.3:c.551G>A | NP_000276.2:p.Arg184Gln | |
| NM_001166056.1:c.548+13986G>A | NP_001159528.1:n.548+13986G>A | |
| NM_001166057.1:c.359G>A | NP_001159529.1:p.Arg120Gln | |
| NM_000285.4:c.551G>A MANE Select | NP_000276.2:p.Arg184Gln | |
| NM_001166056.2:c.548+13986G>A | NP_001159528.1:n.548+13986G>A | |
| NM_001166057.2:c.359G>A | NP_001159529.1:p.Arg120Gln |