Linked Data
ClinVar Variation Id:
2714515
ClinVar RCV Id:
RCV003586903
dbSNP Id:
rs766134060
ExAC:
8:106811072 A / G
gnomAD v2:
8-106811072-A-G
gnomAD v3:
8-105798844-A-G
gnomAD v4:
8-105798844-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105798844A>G , CM000670.2:g.105798844A>G | GRCh38 |
| NC_000008.10:g.106811072A>G , CM000670.1:g.106811072A>G | GRCh37 |
| NC_000008.9:g.106880248A>G | NCBI36 |
| NG_011723.1:g.484926A>G | |
| NG_011723.2:g.484926A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.860A>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Asn287Ser | |
| ENST00000407775.6:c.860A>G (ZFPM2) | ENSP00000384179.2:p.Asn287Ser | |
| ENST00000517361.1:c.464A>G (ZFPM2) | ENSP00000428720.1:p.Asn155Ser | |
| ENST00000520492.5:c.464A>G (ZFPM2) | ENSP00000430757.1:p.Asn155Ser | |
| ENST00000522296.1:n.654A>G (ZFPM2) | ||
| NM_012082.3:c.860A>G (ZFPM2) | NP_036214.2:p.Asn287Ser | |
| NR_125796.1:n.180-402T>C (ZFPM2-AS1) | ||
| NR_125797.1:n.191-402T>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.899A>G (ZFPM2) | XP_011515248.1:p.Asn300Ser | |
| XM_011516947.1:c.830A>G (ZFPM2) | XP_011515249.1:p.Asn277Ser | |
| XM_011516948.1:c.701A>G (ZFPM2) | XP_011515250.1:p.Asn234Ser | |
| XM_011516949.1:c.692A>G (ZFPM2) | XP_011515251.1:p.Asn231Ser | |
| NM_001362836.1:c.701A>G (ZFPM2) | NP_001349765.1:p.Asn234Ser | |
| NM_001362837.1:c.464A>G (ZFPM2) | NP_001349766.1:p.Asn155Ser | |
| XM_011516947.3:c.830A>G (ZFPM2) | XP_011515249.1:p.Asn277Ser | |
| NM_012082.4:c.860A>G (ZFPM2) MANE Select | NP_036214.2:p.Asn287Ser | |
| NM_001362836.2:c.701A>G (ZFPM2) | NP_001349765.1:p.Asn234Ser | |
| NM_001362837.2:c.464A>G (ZFPM2) | NP_001349766.1:p.Asn155Ser |