Linked Data
ClinVar Variation Id:
983351
ClinVar RCV Id:
RCV001263306
dbSNP Id:
rs2074386578
gnomAD v4:
19-17338175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17338175C>A , CM000681.2:g.17338175C>A | GRCh38 |
| NC_000019.9:g.17448984C>A , CM000681.1:g.17448984C>A | GRCh37 |
| NC_000019.8:g.17309984C>A | NCBI36 |
| NG_027824.1:g.8194C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324894.13:c.221C>A MANE Select | ENSP00000313818.7:p.Ala74Asp | |
| ENST00000324894.12:c.221C>A | ENSP00000313818.7:p.Ala74Asp | |
| ENST00000358792.11:c.221C>A | ENSP00000351644.6:p.Ala74Asp | |
| ENST00000361619.9:c.287C>A | ENSP00000354598.4:p.Ala96Asp | |
| ENST00000593297.5:n.186C>A | ||
| ENST00000594018.5:c.221C>A | ENSP00000471421.1:p.Ala74Asp | |
| ENST00000594345.5:n.634C>A | ||
| ENST00000596001.5:n.590C>A | ||
| ENST00000596166.5:n.383C>A | ||
| ENST00000596218.5:n.465C>A | ||
| ENST00000596941.5:n.330C>A | ||
| ENST00000598038.5:n.1021C>A | ||
| ENST00000598493.5:c.221C>A | ENSP00000472156.1:p.Ala74Asp | |
| ENST00000599329.1:n.324C>A | ||
| ENST00000599429.5:n.316C>A | ||
| ENST00000600610.5:c.*220C>A | ENSP00000469008.1:n.*220C>A | |
| ENST00000600625.5:c.221C>A | ENSP00000473150.1:p.Ala74Asp | |
| ENST00000600995.5:n.475C>A | ||
| ENST00000601213.5:c.276C>A | ENSP00000471657.1:p.Cys92Ter | |
| ENST00000601261.5:n.186C>A | ||
| ENST00000602165.1:c.204C>A | ENSP00000470109.1:p.Cys68Ter | |
| NM_001128855.2:c.221C>A | NP_001122327.1:p.Ala74Asp | |
| NM_001195422.1:c.287C>A | NP_001182351.1:p.Ala96Asp | |
| NM_032620.3:c.221C>A | NP_116009.2:p.Ala74Asp | |
| NM_133644.3:c.221C>A | NP_598399.2:p.Ala74Asp | |
| NM_032620.4:c.221C>A MANE Select | NP_116009.2:p.Ala74Asp | |
| NM_001128855.3:c.221C>A | NP_001122327.1:p.Ala74Asp | |
| NM_133644.4:c.221C>A | NP_598399.2:p.Ala74Asp |