Linked Data
ClinVar Variation Id:
212
dbSNP Id:
rs121917723
ExAC:
19:33892761 C / T
gnomAD v2:
19-33892761-C-T
gnomAD v3:
19-33401855-C-T
gnomAD v4:
19-33401855-C-T
PubMed:
PMID:8900231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401855C>T , CM000681.2:g.33401855C>T | GRCh38 |
| NC_000019.9:g.33892761C>T , CM000681.1:g.33892761C>T | GRCh37 |
| NC_000019.8:g.38584601C>T | NCBI36 |
| NG_013358.1:g.125039G>A | |
| NG_013358.2:g.125039G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588328.7:c.833G>A | ENSP00000468516.4:p.Gly278Asp | |
| ENST00000651901.2:c.833G>A | ENSP00000498922.2:p.Gly278Asp | |
| ENST00000698359.1:c.788G>A | ENSP00000513682.1:p.Gly263Asp | |
| ENST00000698360.1:c.884G>A | ENSP00000513683.1:p.Gly295Asp | |
| ENST00000698361.1:c.833G>A | ENSP00000513684.1:p.Gly278Asp | |
| ENST00000698362.1:c.833G>A | ENSP00000513685.1:p.Gly278Asp | |
| ENST00000698363.1:n.896G>A | ||
| ENST00000698364.1:n.896G>A | ||
| ENST00000698365.1:n.896G>A | ||
| ENST00000698426.1:c.512G>A | ENSP00000513713.1:p.Gly171Asp | |
| ENST00000698427.1:c.875G>A | ENSP00000513714.1:p.Gly292Asp | |
| ENST00000698428.1:c.512G>A | ENSP00000513715.1:p.Gly171Asp | |
| ENST00000698429.1:n.716G>A | ||
| ENST00000698430.1:c.1083G>A | ||
| ENST00000698431.1:c.570G>A | ENSP00000513717.1:n.570G>A | |
| ENST00000698432.1:c.642G>A | ||
| ENST00000698433.1:n.295G>A | ||
| ENST00000698434.1:n.320G>A | ||
| ENST00000698435.1:c.521G>A | ENSP00000513719.1:p.Gly174Asp | |
| ENST00000244137.12:c.833G>A MANE Select | ENSP00000244137.5:p.Gly278Asp | |
| ENST00000588328.6:c.822G>A | ||
| ENST00000590731.6:n.508G>A | ||
| ENST00000651901.1:c.829G>A | ||
| ENST00000244137.11:c.833G>A | ENSP00000244137.5:p.Gly278Asp | |
| ENST00000397032.8:c.710G>A | ENSP00000380226.3:p.Gly237Asp | |
| ENST00000436370.7:c.641G>A | ENSP00000391890.2:p.Gly214Asp | |
| ENST00000588328.5:c.324G>A | ||
| ENST00000588719.5:n.468G>A | ||
| ENST00000590731.5:n.508G>A | ||
| ENST00000593163.5:n.998G>A | ||
| ENST00000609145.5:c.266G>A | ENSP00000476514.1:p.Gly89Asp | |
| NM_000285.3:c.833G>A | NP_000276.2:p.Gly278Asp | |
| NM_001166056.1:c.710G>A | NP_001159528.1:p.Gly237Asp | |
| NM_001166057.1:c.641G>A | NP_001159529.1:p.Gly214Asp | |
| NM_000285.4:c.833G>A MANE Select | NP_000276.2:p.Gly278Asp | |
| NM_001166056.2:c.710G>A | NP_001159528.1:p.Gly237Asp | |
| NM_001166057.2:c.641G>A | NP_001159529.1:p.Gly214Asp |