Linked Data
ClinVar Variation Id:
6131
ClinVar RCV Id:
RCV000006505
dbSNP Id:
rs121908604
PubMed:
PMID:17568391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105802609A>G , CM000670.2:g.105802609A>G | GRCh38 |
| NC_000008.10:g.106814837A>G , CM000670.1:g.106814837A>G | GRCh37 |
| NC_000008.9:g.106884013A>G | NCBI36 |
| NG_011723.1:g.488691A>G | |
| NG_011723.2:g.488691A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407775.7:c.2527A>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Thr843Ala | |
| ENST00000407775.6:c.2527A>G (ZFPM2) | ENSP00000384179.2:p.Thr843Ala | |
| ENST00000517361.1:c.2131A>G (ZFPM2) | ENSP00000428720.1:p.Thr711Ala | |
| ENST00000520492.5:c.2131A>G (ZFPM2) | ENSP00000430757.1:p.Thr711Ala | |
| ENST00000522296.1:n.2321A>G (ZFPM2) | ||
| NM_012082.3:c.2527A>G (ZFPM2) | NP_036214.2:p.Thr843Ala | |
| NR_125796.1:n.180-4167T>C (ZFPM2-AS1) | ||
| NR_125797.1:n.191-4167T>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.2566A>G (ZFPM2) | XP_011515248.1:p.Thr856Ala | |
| XM_011516947.1:c.2497A>G (ZFPM2) | XP_011515249.1:p.Thr833Ala | |
| XM_011516948.1:c.2368A>G (ZFPM2) | XP_011515250.1:p.Thr790Ala | |
| XM_011516949.1:c.2359A>G (ZFPM2) | XP_011515251.1:p.Thr787Ala | |
| NM_001362836.1:c.2368A>G (ZFPM2) | NP_001349765.1:p.Thr790Ala | |
| NM_001362837.1:c.2131A>G (ZFPM2) | NP_001349766.1:p.Thr711Ala | |
| XM_011516947.3:c.2497A>G (ZFPM2) | XP_011515249.1:p.Thr833Ala | |
| NM_012082.4:c.2527A>G (ZFPM2) MANE Select | NP_036214.2:p.Thr843Ala | |
| NM_001362836.2:c.2368A>G (ZFPM2) | NP_001349765.1:p.Thr790Ala | |
| NM_001362837.2:c.2131A>G (ZFPM2) | NP_001349766.1:p.Thr711Ala |