Linked Data
ClinVar Variation Id:
2739373
ClinVar RCV Id:
RCV003587477
dbSNP Id:
rs749813399
ExAC:
8:106811180 A / C
gnomAD v2:
8-106811180-A-C
gnomAD v3:
8-105798952-A-C
gnomAD v4:
8-105798952-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105798952A>C , CM000670.2:g.105798952A>C | GRCh38 |
| NC_000008.10:g.106811180A>C , CM000670.1:g.106811180A>C | GRCh37 |
| NC_000008.9:g.106880356A>C | NCBI36 |
| NG_011723.1:g.485034A>C | |
| NG_011723.2:g.485034A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.964+4A>C (ZFPM2) MANE Select | ENSP00000384179.2:n.964+4A>C | |
| ENST00000407775.6:c.964+4A>C (ZFPM2) | ENSP00000384179.2:n.964+4A>C | |
| ENST00000517361.1:c.568+4A>C (ZFPM2) | ENSP00000428720.1:n.568+4A>C | |
| ENST00000520492.5:c.568+4A>C (ZFPM2) | ENSP00000430757.1:n.568+4A>C | |
| ENST00000522296.1:n.758+4A>C (ZFPM2) | ||
| NM_012082.3:c.964+4A>C (ZFPM2) | NP_036214.2:n.964+4A>C | |
| NR_125796.1:n.180-510T>G (ZFPM2-AS1) | ||
| NR_125797.1:n.191-510T>G (ZFPM2-AS1) | ||
| XM_011516946.1:c.1003+4A>C (ZFPM2) | XP_011515248.1:n.1003+4A>C | |
| XM_011516947.1:c.934+4A>C (ZFPM2) | XP_011515249.1:n.934+4A>C | |
| XM_011516948.1:c.805+4A>C (ZFPM2) | XP_011515250.1:n.805+4A>C | |
| XM_011516949.1:c.796+4A>C (ZFPM2) | XP_011515251.1:n.796+4A>C | |
| NM_001362836.1:c.805+4A>C (ZFPM2) | NP_001349765.1:n.805+4A>C | |
| NM_001362837.1:c.568+4A>C (ZFPM2) | NP_001349766.1:n.568+4A>C | |
| XM_011516947.3:c.934+4A>C (ZFPM2) | XP_011515249.1:n.934+4A>C | |
| NM_012082.4:c.964+4A>C (ZFPM2) MANE Select | NP_036214.2:n.964+4A>C | |
| NM_001362836.2:c.805+4A>C (ZFPM2) | NP_001349765.1:n.805+4A>C | |
| NM_001362837.2:c.568+4A>C (ZFPM2) | NP_001349766.1:n.568+4A>C |