Linked Data
ClinVar Variation Id:
3193232
ClinVar RCV Id:
RCV004486134
dbSNP Id:
rs752621684
ExAC:
11:58385123 A / T
gnomAD v2:
11-58385123-A-T
gnomAD v4:
11-58617650-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.58617650A>T , CM000673.2:g.58617650A>T | GRCh38 |
| NC_000011.9:g.58385123A>T , CM000673.1:g.58385123A>T | GRCh37 |
| NC_000011.8:g.58141699A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316059.7:c.1657A>T (ZFP91) MANE Select | ENSP00000339030.5:p.Ile553Leu | |
| ENST00000316059.6:c.1657A>T (ZFP91) | ENSP00000339030.5:p.Ile553Leu | |
| ENST00000389919.8:c.1575+82A>T (ZFP91-CNTF) | ENSP00000455911.1:n.1575+82A>T | |
| ENST00000422974.2:c.1056+82A>T (ZFP91-CNTF) | ENSP00000457288.1:n.1056+82A>T | |
| NM_001197051.1:c.1654A>T (ZFP91) | NP_001183980.1:p.Ile552Leu | |
| NM_053023.4:c.1657A>T (ZFP91) | NP_444251.1:p.Ile553Leu | |
| NR_024091.1:n.1743+82A>T (ZFP91-CNTF) | ||
| NM_053023.5:c.1657A>T (ZFP91) MANE Select | NP_444251.1:p.Ile553Leu | |
| NM_001197051.2:c.1654A>T (ZFP91) | NP_001183980.1:p.Ile552Leu |