Linked Data
ClinVar Variation Id:
1613856
ClinVar RCV Id:
RCV002173593
dbSNP Id:
rs189501457
ExAC:
8:106813264 T / C
gnomAD v2:
8-106813264-T-C
gnomAD v3:
8-105801036-T-C
gnomAD v4:
8-105801036-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801036T>C , CM000670.2:g.105801036T>C | GRCh38 |
| NC_000008.10:g.106813264T>C , CM000670.1:g.106813264T>C | GRCh37 |
| NC_000008.9:g.106882440T>C | NCBI36 |
| NG_011723.1:g.487118T>C | |
| NG_011723.2:g.487118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.965-11T>C (ZFPM2) MANE Select | ENSP00000384179.2:n.965-11T>C | |
| ENST00000407775.6:c.965-11T>C (ZFPM2) | ENSP00000384179.2:n.965-11T>C | |
| ENST00000517361.1:c.569-11T>C (ZFPM2) | ENSP00000428720.1:n.569-11T>C | |
| ENST00000520492.5:c.569-11T>C (ZFPM2) | ENSP00000430757.1:n.569-11T>C | |
| ENST00000522296.1:n.759-11T>C (ZFPM2) | ||
| NM_012082.3:c.965-11T>C (ZFPM2) | NP_036214.2:n.965-11T>C | |
| NR_125796.1:n.180-2594A>G (ZFPM2-AS1) | ||
| NR_125797.1:n.191-2594A>G (ZFPM2-AS1) | ||
| XM_011516946.1:c.1004-11T>C (ZFPM2) | XP_011515248.1:n.1004-11T>C | |
| XM_011516947.1:c.935-11T>C (ZFPM2) | XP_011515249.1:n.935-11T>C | |
| XM_011516948.1:c.806-11T>C (ZFPM2) | XP_011515250.1:n.806-11T>C | |
| XM_011516949.1:c.797-11T>C (ZFPM2) | XP_011515251.1:n.797-11T>C | |
| NM_001362836.1:c.806-11T>C (ZFPM2) | NP_001349765.1:n.806-11T>C | |
| NM_001362837.1:c.569-11T>C (ZFPM2) | NP_001349766.1:n.569-11T>C | |
| XM_011516947.3:c.935-11T>C (ZFPM2) | XP_011515249.1:n.935-11T>C | |
| NM_012082.4:c.965-11T>C (ZFPM2) MANE Select | NP_036214.2:n.965-11T>C | |
| NM_001362836.2:c.806-11T>C (ZFPM2) | NP_001349765.1:n.806-11T>C | |
| NM_001362837.2:c.569-11T>C (ZFPM2) | NP_001349766.1:n.569-11T>C |