Linked Data
ClinVar Variation Id:
1088834
ClinVar RCV Id:
RCV001407477
dbSNP Id:
rs377293678
ExAC:
8:106813528 C / T
gnomAD v2:
8-106813528-C-T
gnomAD v3:
8-105801300-C-T
gnomAD v4:
8-105801300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801300C>T , CM000670.2:g.105801300C>T | GRCh38 |
| NC_000008.10:g.106813528C>T , CM000670.1:g.106813528C>T | GRCh37 |
| NC_000008.9:g.106882704C>T | NCBI36 |
| NG_011723.1:g.487382C>T | |
| NG_011723.2:g.487382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1218C>T (ZFPM2) MANE Select | ENSP00000384179.2:p.Asp406= | |
| ENST00000407775.6:c.1218C>T (ZFPM2) | ENSP00000384179.2:p.Asp406= | |
| ENST00000517361.1:c.822C>T (ZFPM2) | ENSP00000428720.1:p.Asp274= | |
| ENST00000520492.5:c.822C>T (ZFPM2) | ENSP00000430757.1:p.Asp274= | |
| ENST00000522296.1:n.1012C>T (ZFPM2) | ||
| NM_012082.3:c.1218C>T (ZFPM2) | NP_036214.2:p.Asp406= | |
| NR_125796.1:n.180-2858G>A (ZFPM2-AS1) | ||
| NR_125797.1:n.191-2858G>A (ZFPM2-AS1) | ||
| XM_011516946.1:c.1257C>T (ZFPM2) | XP_011515248.1:p.Asp419= | |
| XM_011516947.1:c.1188C>T (ZFPM2) | XP_011515249.1:p.Asp396= | |
| XM_011516948.1:c.1059C>T (ZFPM2) | XP_011515250.1:p.Asp353= | |
| XM_011516949.1:c.1050C>T (ZFPM2) | XP_011515251.1:p.Asp350= | |
| NM_001362836.1:c.1059C>T (ZFPM2) | NP_001349765.1:p.Asp353= | |
| NM_001362837.1:c.822C>T (ZFPM2) | NP_001349766.1:p.Asp274= | |
| XM_011516947.3:c.1188C>T (ZFPM2) | XP_011515249.1:p.Asp396= | |
| NM_012082.4:c.1218C>T (ZFPM2) MANE Select | NP_036214.2:p.Asp406= | |
| NM_001362836.2:c.1059C>T (ZFPM2) | NP_001349765.1:p.Asp353= | |
| NM_001362837.2:c.822C>T (ZFPM2) | NP_001349766.1:p.Asp274= |