Linked Data
ClinVar Variation Id:
156584
ClinVar RCV Id:
RCV000144725
dbSNP Id:
rs200834568
ExAC:
8:106810991 G / A
gnomAD v2:
8-106810991-G-A
gnomAD v3:
8-105798763-G-A
gnomAD v4:
8-105798763-G-A
PubMed:
PMID:24549039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105798763G>A , CM000670.2:g.105798763G>A | GRCh38 |
| NC_000008.10:g.106810991G>A , CM000670.1:g.106810991G>A | GRCh37 |
| NC_000008.9:g.106880167G>A | NCBI36 |
| NG_011723.1:g.484845G>A | |
| NG_011723.2:g.484845G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407775.7:c.779G>A (ZFPM2) MANE Select | ENSP00000384179.2:p.Arg260Gln | |
| ENST00000407775.6:c.779G>A (ZFPM2) | ENSP00000384179.2:p.Arg260Gln | |
| ENST00000517361.1:c.383G>A (ZFPM2) | ENSP00000428720.1:p.Arg128Gln | |
| ENST00000520492.5:c.383G>A (ZFPM2) | ENSP00000430757.1:p.Arg128Gln | |
| ENST00000522296.1:n.573G>A (ZFPM2) | ||
| NM_012082.3:c.779G>A (ZFPM2) | NP_036214.2:p.Arg260Gln | |
| NR_125796.1:n.180-321C>T (ZFPM2-AS1) | ||
| NR_125797.1:n.191-321C>T (ZFPM2-AS1) | ||
| XM_011516946.1:c.818G>A (ZFPM2) | XP_011515248.1:p.Arg273Gln | |
| XM_011516947.1:c.749G>A (ZFPM2) | XP_011515249.1:p.Arg250Gln | |
| XM_011516948.1:c.620G>A (ZFPM2) | XP_011515250.1:p.Arg207Gln | |
| XM_011516949.1:c.611G>A (ZFPM2) | XP_011515251.1:p.Arg204Gln | |
| NM_001362836.1:c.620G>A (ZFPM2) | NP_001349765.1:p.Arg207Gln | |
| NM_001362837.1:c.383G>A (ZFPM2) | NP_001349766.1:p.Arg128Gln | |
| XM_011516947.3:c.749G>A (ZFPM2) | XP_011515249.1:p.Arg250Gln | |
| NM_012082.4:c.779G>A (ZFPM2) MANE Select | NP_036214.2:p.Arg260Gln | |
| NM_001362836.2:c.620G>A (ZFPM2) | NP_001349765.1:p.Arg207Gln | |
| NM_001362837.2:c.383G>A (ZFPM2) | NP_001349766.1:p.Arg128Gln |