Linked Data
ClinVar Variation Id:
2354851
ClinVar RCV Id:
RCV004197361
dbSNP Id:
rs2088479141
gnomAD v3:
1-26170467-G-T
gnomAD v4:
1-26170467-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26170467G>T , CM000663.2:g.26170467G>T | GRCh38 |
| NC_000001.10:g.26496958G>T , CM000663.1:g.26496958G>T | GRCh37 |
| NC_000001.9:g.26369545G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433939.7:c.*165C>A (ZNF593OS) MANE Select | ENSP00000489416.1:n.*165C>A | |
| ENST00000270812.6:c.250G>T (ZNF593) | ENSP00000270812.5:p.Asp84Tyr | |
| ENST00000374266.7:c.250G>T (ZNF593) MANE Select | ENSP00000363384.5:p.Asp84Tyr | |
| ENST00000270812.5:c.250G>T (ZNF593) | ENSP00000270812.5:p.Asp84Tyr | |
| ENST00000374266.5:c.250G>T (ZNF593) | ENSP00000363384.5:p.Asp84Tyr | |
| ENST00000407889.6:c.*94+71C>A (ZNF593OS) | ENSP00000489065.1:n.*94+71C>A | |
| ENST00000414762.1:n.276+71C>A (ZNF593OS) | ||
| ENST00000433939.6:c.*165C>A (ZNF593OS) | ENSP00000489416.1:n.*165C>A | |
| ENST00000444682.1:n.350C>A (ZNF593OS) | ||
| ENST00000448923.2:c.*165C>A (ZNF593OS) | ENSP00000489429.1:n.*165C>A | |
| NM_015871.4:c.250G>T (ZNF593) | NP_056955.2:p.Asp84Tyr | |
| NM_015871.5:c.250G>T (ZNF593) MANE Select | NP_056955.2:p.Asp84Tyr | |
| NM_001395468.1:c.*165C>A (ZNF593OS) MANE Select | NP_001382397.1:n.*165C>A |