Linked Data
ClinVar Variation Id:
633466
ClinVar RCV Id:
RCV000782369
dbSNP Id:
rs536096943
ExAC:
8:106813478 A / C
gnomAD v2:
8-106813478-A-C
gnomAD v3:
8-105801250-A-C
gnomAD v4:
8-105801250-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801250A>C , CM000670.2:g.105801250A>C | GRCh38 |
| NC_000008.10:g.106813478A>C , CM000670.1:g.106813478A>C | GRCh37 |
| NC_000008.9:g.106882654A>C | NCBI36 |
| NG_011723.1:g.487332A>C | |
| NG_011723.2:g.487332A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1168A>C (ZFPM2) MANE Select | ENSP00000384179.2:p.Lys390Gln | |
| ENST00000407775.6:c.1168A>C (ZFPM2) | ENSP00000384179.2:p.Lys390Gln | |
| ENST00000517361.1:c.772A>C (ZFPM2) | ENSP00000428720.1:p.Lys258Gln | |
| ENST00000520492.5:c.772A>C (ZFPM2) | ENSP00000430757.1:p.Lys258Gln | |
| ENST00000522296.1:n.962A>C (ZFPM2) | ||
| NM_012082.3:c.1168A>C (ZFPM2) | NP_036214.2:p.Lys390Gln | |
| NR_125796.1:n.180-2808T>G (ZFPM2-AS1) | ||
| NR_125797.1:n.191-2808T>G (ZFPM2-AS1) | ||
| XM_011516946.1:c.1207A>C (ZFPM2) | XP_011515248.1:p.Lys403Gln | |
| XM_011516947.1:c.1138A>C (ZFPM2) | XP_011515249.1:p.Lys380Gln | |
| XM_011516948.1:c.1009A>C (ZFPM2) | XP_011515250.1:p.Lys337Gln | |
| XM_011516949.1:c.1000A>C (ZFPM2) | XP_011515251.1:p.Lys334Gln | |
| NM_001362836.1:c.1009A>C (ZFPM2) | NP_001349765.1:p.Lys337Gln | |
| NM_001362837.1:c.772A>C (ZFPM2) | NP_001349766.1:p.Lys258Gln | |
| XM_011516947.3:c.1138A>C (ZFPM2) | XP_011515249.1:p.Lys380Gln | |
| NM_012082.4:c.1168A>C (ZFPM2) MANE Select | NP_036214.2:p.Lys390Gln | |
| NM_001362836.2:c.1009A>C (ZFPM2) | NP_001349765.1:p.Lys337Gln | |
| NM_001362837.2:c.772A>C (ZFPM2) | NP_001349766.1:p.Lys258Gln |