Linked Data
ClinVar Variation Id:
2381990
ClinVar RCV Id:
RCV004223434
dbSNP Id:
rs776356418
ExAC:
1:26496622 G / A
gnomAD v2:
1-26496622-G-A
gnomAD v3:
1-26170131-G-A
gnomAD v4:
1-26170131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26170131G>A , CM000663.2:g.26170131G>A | GRCh38 |
| NC_000001.10:g.26496622G>A , CM000663.1:g.26496622G>A | GRCh37 |
| NC_000001.9:g.26369209G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433939.7:c.*501C>T (ZNF593OS) MANE Select | ENSP00000489416.1:n.*501C>T | |
| ENST00000270812.6:c.148G>A (ZNF593) | ENSP00000270812.5:p.Glu50Lys | |
| ENST00000374266.7:c.148G>A (ZNF593) MANE Select | ENSP00000363384.5:p.Glu50Lys | |
| ENST00000270812.5:c.148G>A (ZNF593) | ENSP00000270812.5:p.Glu50Lys | |
| ENST00000374266.5:c.148G>A (ZNF593) | ENSP00000363384.5:p.Glu50Lys | |
| ENST00000407889.6:c.*314C>T (ZNF593OS) | ENSP00000489065.1:n.*314C>T | |
| ENST00000448923.2:c.*501C>T (ZNF593OS) | ENSP00000489429.1:n.*501C>T | |
| NM_015871.4:c.148G>A (ZNF593) | NP_056955.2:p.Glu50Lys | |
| NM_015871.5:c.148G>A (ZNF593) MANE Select | NP_056955.2:p.Glu50Lys | |
| NM_001395468.1:c.*501C>T (ZNF593OS) MANE Select | NP_001382397.1:n.*501C>T |