Linked Data
ClinVar Variation Id:
39517
ClinVar RCV Id:
RCV000032714
dbSNP Id:
rs397514520
PubMed:
PMID:20807224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105788866T>G , CM000670.2:g.105788866T>G | GRCh38 |
| NC_000008.10:g.106801094T>G , CM000670.1:g.106801094T>G | GRCh37 |
| NC_000008.9:g.106870270T>G | NCBI36 |
| NG_011723.1:g.474948T>G | |
| NG_011723.2:g.474948T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.681T>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Ile227Met | |
| ENST00000407775.6:c.681T>G (ZFPM2) | ENSP00000384179.2:p.Ile227Met | |
| ENST00000511341.6:n.1421T>G (ZFPM2) | ||
| ENST00000517361.1:c.285T>G (ZFPM2) | ENSP00000428720.1:p.Ile95Met | |
| ENST00000520492.5:c.285T>G (ZFPM2) | ENSP00000430757.1:p.Ile95Met | |
| ENST00000522296.1:n.195T>G (ZFPM2) | ||
| NM_012082.3:c.681T>G (ZFPM2) | NP_036214.2:p.Ile227Met | |
| NR_125796.1:n.298-1270A>C (ZFPM2-AS1) | ||
| NR_125797.1:n.309-6383A>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.720T>G (ZFPM2) | XP_011515248.1:p.Ile240Met | |
| XM_011516947.1:c.651T>G (ZFPM2) | XP_011515249.1:p.Ile217Met | |
| XM_011516948.1:c.522T>G (ZFPM2) | XP_011515250.1:p.Ile174Met | |
| XM_011516949.1:c.572-9858T>G (ZFPM2) | XP_011515251.1:n.572-9858T>G | |
| NM_001362836.1:c.522T>G (ZFPM2) | NP_001349765.1:p.Ile174Met | |
| NM_001362837.1:c.285T>G (ZFPM2) | NP_001349766.1:p.Ile95Met | |
| XM_011516947.3:c.651T>G (ZFPM2) | XP_011515249.1:p.Ile217Met | |
| NM_012082.4:c.681T>G (ZFPM2) MANE Select | NP_036214.2:p.Ile227Met | |
| NM_001362836.2:c.522T>G (ZFPM2) | NP_001349765.1:p.Ile174Met | |
| NM_001362837.2:c.285T>G (ZFPM2) | NP_001349766.1:p.Ile95Met |