Linked Data
dbSNP Id:
rs770890867
ExAC:
8:106813880 G / T
gnomAD v2:
8-106813880-G-T
gnomAD v4:
8-105801652-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801652G>T , CM000670.2:g.105801652G>T | GRCh38 |
| NC_000008.10:g.106813880G>T , CM000670.1:g.106813880G>T | GRCh37 |
| NC_000008.9:g.106883056G>T | NCBI36 |
| NG_011723.1:g.487734G>T | |
| NG_011723.2:g.487734G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1570G>T (ZFPM2) MANE Select | ENSP00000384179.2:p.Val524Leu | |
| ENST00000407775.6:c.1570G>T (ZFPM2) | ENSP00000384179.2:p.Val524Leu | |
| ENST00000517361.1:c.1174G>T (ZFPM2) | ENSP00000428720.1:p.Val392Leu | |
| ENST00000520492.5:c.1174G>T (ZFPM2) | ENSP00000430757.1:p.Val392Leu | |
| ENST00000522296.1:n.1364G>T (ZFPM2) | ||
| NM_012082.3:c.1570G>T (ZFPM2) | NP_036214.2:p.Val524Leu | |
| NR_125796.1:n.180-3210C>A (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3210C>A (ZFPM2-AS1) | ||
| XM_011516946.1:c.1609G>T (ZFPM2) | XP_011515248.1:p.Val537Leu | |
| XM_011516947.1:c.1540G>T (ZFPM2) | XP_011515249.1:p.Val514Leu | |
| XM_011516948.1:c.1411G>T (ZFPM2) | XP_011515250.1:p.Val471Leu | |
| XM_011516949.1:c.1402G>T (ZFPM2) | XP_011515251.1:p.Val468Leu | |
| NM_001362836.1:c.1411G>T (ZFPM2) | NP_001349765.1:p.Val471Leu | |
| NM_001362837.1:c.1174G>T (ZFPM2) | NP_001349766.1:p.Val392Leu | |
| XM_011516947.3:c.1540G>T (ZFPM2) | XP_011515249.1:p.Val514Leu | |
| NM_012082.4:c.1570G>T (ZFPM2) MANE Select | NP_036214.2:p.Val524Leu | |
| NM_001362836.2:c.1411G>T (ZFPM2) | NP_001349765.1:p.Val471Leu | |
| NM_001362837.2:c.1174G>T (ZFPM2) | NP_001349766.1:p.Val392Leu |