Linked Data
ClinVar Variation Id:
208
dbSNP Id:
rs121917721
ExAC:
19:33892768 C / T
gnomAD v2:
19-33892768-C-T
gnomAD v3:
19-33401862-C-T
gnomAD v4:
19-33401862-C-T
MyVariant Identifiers:
chr19:g.33892768C>T (hg19)
chr19:g.33892768_33892769delinsTG (hg19)
chr19:g.33401862C>T (hg38)
PubMed:
PMID:2365824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401862C>T , CM000681.2:g.33401862C>T | GRCh38 |
| NC_000019.9:g.33892768C>T , CM000681.1:g.33892768C>T | GRCh37 |
| NC_000019.8:g.38584608C>T | NCBI36 |
| NG_013358.1:g.125032G>A | |
| NG_013358.2:g.125032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.826G>A | ENSP00000468516.4:p.Asp276Asn | |
| ENST00000651901.2:c.826G>A | ENSP00000498922.2:p.Asp276Asn | |
| ENST00000698359.1:c.781G>A | ENSP00000513682.1:p.Asp261Asn | |
| ENST00000698360.1:c.877G>A | ENSP00000513683.1:p.Asp293Asn | |
| ENST00000698361.1:c.826G>A | ENSP00000513684.1:p.Asp276Asn | |
| ENST00000698362.1:c.826G>A | ENSP00000513685.1:p.Asp276Asn | |
| ENST00000698363.1:n.889G>A | ||
| ENST00000698364.1:n.889G>A | ||
| ENST00000698365.1:n.889G>A | ||
| ENST00000698426.1:c.505G>A | ENSP00000513713.1:p.Asp169Asn | |
| ENST00000698427.1:c.868G>A | ENSP00000513714.1:p.Asp290Asn | |
| ENST00000698428.1:c.505G>A | ENSP00000513715.1:p.Asp169Asn | |
| ENST00000698429.1:n.709G>A | ||
| ENST00000698430.1:c.1076G>A | ||
| ENST00000698431.1:c.563G>A | ENSP00000513717.1:n.563G>A | |
| ENST00000698432.1:c.635G>A | ||
| ENST00000698433.1:n.288G>A | ||
| ENST00000698434.1:n.313G>A | ||
| ENST00000698435.1:c.514G>A | ENSP00000513719.1:p.Asp172Asn | |
| ENST00000244137.12:c.826G>A MANE Select | ENSP00000244137.5:p.Asp276Asn | |
| ENST00000588328.6:c.815G>A | ||
| ENST00000590731.6:n.501G>A | ||
| ENST00000651901.1:c.822G>A | ||
| ENST00000244137.11:c.826G>A | ENSP00000244137.5:p.Asp276Asn | |
| ENST00000397032.8:c.703G>A | ENSP00000380226.3:p.Asp235Asn | |
| ENST00000436370.7:c.634G>A | ENSP00000391890.2:p.Asp212Asn | |
| ENST00000588328.5:c.317G>A | ||
| ENST00000588719.5:n.461G>A | ||
| ENST00000590731.5:n.501G>A | ||
| ENST00000593163.5:n.991G>A | ||
| ENST00000609145.5:c.259G>A | ENSP00000476514.1:p.Asp87Asn | |
| NM_000285.3:c.826G>A | NP_000276.2:p.Asp276Asn | |
| NM_001166056.1:c.703G>A | NP_001159528.1:p.Asp235Asn | |
| NM_001166057.1:c.634G>A | NP_001159529.1:p.Asp212Asn | |
| NM_000285.4:c.826G>A MANE Select | NP_000276.2:p.Asp276Asn | |
| NM_001166056.2:c.703G>A | NP_001159528.1:p.Asp235Asn | |
| NM_001166057.2:c.634G>A | NP_001159529.1:p.Asp212Asn |