Linked Data
ClinVar Variation Id:
1571218
dbSNP Id:
rs758169109
ExAC:
8:106800995 G / A
gnomAD v2:
8-106800995-G-A
gnomAD v3:
8-105788767-G-A
gnomAD v4:
8-105788767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105788767G>A , CM000670.2:g.105788767G>A | GRCh38 |
| NC_000008.10:g.106800995G>A , CM000670.1:g.106800995G>A | GRCh37 |
| NC_000008.9:g.106870171G>A | NCBI36 |
| NG_011723.1:g.474849G>A | |
| NG_011723.2:g.474849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.582G>A (ZFPM2) MANE Select | ENSP00000384179.2:p.Glu194= | |
| ENST00000407775.6:c.582G>A (ZFPM2) | ENSP00000384179.2:p.Glu194= | |
| ENST00000511341.6:n.1322G>A (ZFPM2) | ||
| ENST00000517361.1:c.186G>A (ZFPM2) | ENSP00000428720.1:p.Glu62= | |
| ENST00000520492.5:c.186G>A (ZFPM2) | ENSP00000430757.1:p.Glu62= | |
| ENST00000522296.1:n.96G>A (ZFPM2) | ||
| NM_012082.3:c.582G>A (ZFPM2) | NP_036214.2:p.Glu194= | |
| NR_125796.1:n.298-1171C>T (ZFPM2-AS1) | ||
| NR_125797.1:n.309-6284C>T (ZFPM2-AS1) | ||
| XM_011516946.1:c.621G>A (ZFPM2) | XP_011515248.1:p.Glu207= | |
| XM_011516947.1:c.552G>A (ZFPM2) | XP_011515249.1:p.Glu184= | |
| XM_011516948.1:c.423G>A (ZFPM2) | XP_011515250.1:p.Glu141= | |
| XM_011516949.1:c.572-9957G>A (ZFPM2) | XP_011515251.1:n.572-9957G>A | |
| NM_001362836.1:c.423G>A (ZFPM2) | NP_001349765.1:p.Glu141= | |
| NM_001362837.1:c.186G>A (ZFPM2) | NP_001349766.1:p.Glu62= | |
| XM_011516947.3:c.552G>A (ZFPM2) | XP_011515249.1:p.Glu184= | |
| NM_012082.4:c.582G>A (ZFPM2) MANE Select | NP_036214.2:p.Glu194= | |
| NM_001362836.2:c.423G>A (ZFPM2) | NP_001349765.1:p.Glu141= | |
| NM_001362837.2:c.186G>A (ZFPM2) | NP_001349766.1:p.Glu62= |