Linked Data
ClinVar Variation Id:
353753
ClinVar RCV Id:
RCV001723955
dbSNP Id:
rs1801106
ExAC:
5:52358757 G / A
gnomAD v2:
5-52358757-G-A
gnomAD v3:
5-53062927-G-A
gnomAD v4:
5-53062927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53062927G>A , CM000667.2:g.53062927G>A | GRCh38 |
| NC_000005.9:g.52358757G>A , CM000667.1:g.52358757G>A | GRCh37 |
| NC_000005.8:g.52394514G>A | NCBI36 |
| NG_008330.1:g.78602G>A | |
| NG_008330.2:g.78602G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296585.10:c.1600G>A MANE Select | ENSP00000296585.5:p.Glu534Lys | |
| ENST00000296585.9:c.1600G>A | ENSP00000296585.5:p.Glu534Lys | |
| ENST00000503810.6:c.*944G>A | ENSP00000426489.1:n.*944G>A | |
| ENST00000509814.5:c.1600G>A | ENSP00000424397.1:p.Glu534Lys | |
| ENST00000509960.5:c.1600G>A | ENSP00000424642.1:p.Glu534Lys | |
| ENST00000510722.1:c.1600G>A | ENSP00000422145.1:p.Glu534Lys | |
| ENST00000513685.5:c.*1314G>A | ENSP00000422095.1:n.*1314G>A | |
| NM_002203.3:c.1600G>A | NP_002194.2:p.Glu534Lys | |
| NR_073103.1:n.1743G>A | ||
| NR_073104.1:n.1743G>A | ||
| NR_073105.1:n.1743G>A | ||
| NR_073106.1:n.1743G>A | ||
| NR_073107.1:n.1622G>A | ||
| NM_002203.4:c.1600G>A MANE Select | NP_002194.2:p.Glu534Lys | |
| NR_073103.2:n.1717G>A | ||
| NR_073104.2:n.1717G>A | ||
| NR_073105.2:n.1717G>A | ||
| NR_073106.2:n.1717G>A | ||
| NR_073107.2:n.1596G>A |