Linked Data
ClinVar Variation Id:
857370
dbSNP Id:
rs368572530
ExAC:
8:106801030 T / C
gnomAD v2:
8-106801030-T-C
gnomAD v3:
8-105788802-T-C
gnomAD v4:
8-105788802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105788802T>C , CM000670.2:g.105788802T>C | GRCh38 |
| NC_000008.10:g.106801030T>C , CM000670.1:g.106801030T>C | GRCh37 |
| NC_000008.9:g.106870206T>C | NCBI36 |
| NG_011723.1:g.474884T>C | |
| NG_011723.2:g.474884T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.617T>C (ZFPM2) MANE Select | ENSP00000384179.2:p.Leu206Pro | |
| ENST00000407775.6:c.617T>C (ZFPM2) | ENSP00000384179.2:p.Leu206Pro | |
| ENST00000511341.6:n.1357T>C (ZFPM2) | ||
| ENST00000517361.1:c.221T>C (ZFPM2) | ENSP00000428720.1:p.Leu74Pro | |
| ENST00000520492.5:c.221T>C (ZFPM2) | ENSP00000430757.1:p.Leu74Pro | |
| ENST00000522296.1:n.131T>C (ZFPM2) | ||
| NM_012082.3:c.617T>C (ZFPM2) | NP_036214.2:p.Leu206Pro | |
| NR_125796.1:n.298-1206A>G (ZFPM2-AS1) | ||
| NR_125797.1:n.309-6319A>G (ZFPM2-AS1) | ||
| XM_011516946.1:c.656T>C (ZFPM2) | XP_011515248.1:p.Leu219Pro | |
| XM_011516947.1:c.587T>C (ZFPM2) | XP_011515249.1:p.Leu196Pro | |
| XM_011516948.1:c.458T>C (ZFPM2) | XP_011515250.1:p.Leu153Pro | |
| XM_011516949.1:c.572-9922T>C (ZFPM2) | XP_011515251.1:n.572-9922T>C | |
| NM_001362836.1:c.458T>C (ZFPM2) | NP_001349765.1:p.Leu153Pro | |
| NM_001362837.1:c.221T>C (ZFPM2) | NP_001349766.1:p.Leu74Pro | |
| XM_011516947.3:c.587T>C (ZFPM2) | XP_011515249.1:p.Leu196Pro | |
| NM_012082.4:c.617T>C (ZFPM2) MANE Select | NP_036214.2:p.Leu206Pro | |
| NM_001362836.2:c.458T>C (ZFPM2) | NP_001349765.1:p.Leu153Pro | |
| NM_001362837.2:c.221T>C (ZFPM2) | NP_001349766.1:p.Leu74Pro |