Linked Data
ClinVar Variation Id:
2120105
ClinVar RCV Id:
RCV003059215
dbSNP Id:
rs761315189
ExAC:
8:106814037 A / G
gnomAD v2:
8-106814037-A-G
gnomAD v3:
8-105801809-A-G
gnomAD v4:
8-105801809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801809A>G , CM000670.2:g.105801809A>G | GRCh38 |
| NC_000008.10:g.106814037A>G , CM000670.1:g.106814037A>G | GRCh37 |
| NC_000008.9:g.106883213A>G | NCBI36 |
| NG_011723.1:g.487891A>G | |
| NG_011723.2:g.487891A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1727A>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Gln576Arg | |
| ENST00000407775.6:c.1727A>G (ZFPM2) | ENSP00000384179.2:p.Gln576Arg | |
| ENST00000517361.1:c.1331A>G (ZFPM2) | ENSP00000428720.1:p.Gln444Arg | |
| ENST00000520492.5:c.1331A>G (ZFPM2) | ENSP00000430757.1:p.Gln444Arg | |
| ENST00000522296.1:n.1521A>G (ZFPM2) | ||
| NM_012082.3:c.1727A>G (ZFPM2) | NP_036214.2:p.Gln576Arg | |
| NR_125796.1:n.180-3367T>C (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3367T>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.1766A>G (ZFPM2) | XP_011515248.1:p.Gln589Arg | |
| XM_011516947.1:c.1697A>G (ZFPM2) | XP_011515249.1:p.Gln566Arg | |
| XM_011516948.1:c.1568A>G (ZFPM2) | XP_011515250.1:p.Gln523Arg | |
| XM_011516949.1:c.1559A>G (ZFPM2) | XP_011515251.1:p.Gln520Arg | |
| NM_001362836.1:c.1568A>G (ZFPM2) | NP_001349765.1:p.Gln523Arg | |
| NM_001362837.1:c.1331A>G (ZFPM2) | NP_001349766.1:p.Gln444Arg | |
| XM_011516947.3:c.1697A>G (ZFPM2) | XP_011515249.1:p.Gln566Arg | |
| NM_012082.4:c.1727A>G (ZFPM2) MANE Select | NP_036214.2:p.Gln576Arg | |
| NM_001362836.2:c.1568A>G (ZFPM2) | NP_001349765.1:p.Gln523Arg | |
| NM_001362837.2:c.1331A>G (ZFPM2) | NP_001349766.1:p.Gln444Arg |