Linked Data
ClinVar Variation Id:
544226
ClinVar RCV Id:
RCV000655314
dbSNP Id:
rs138466839
ExAC:
8:106800942 A / T
gnomAD v2:
8-106800942-A-T
gnomAD v3:
8-105788714-A-T
gnomAD v4:
8-105788714-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105788714A>T , CM000670.2:g.105788714A>T | GRCh38 |
| NC_000008.10:g.106800942A>T , CM000670.1:g.106800942A>T | GRCh37 |
| NC_000008.9:g.106870118A>T | NCBI36 |
| NG_011723.1:g.474796A>T | |
| NG_011723.2:g.474796A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.533-4A>T (ZFPM2) MANE Select | ENSP00000384179.2:n.533-4A>T | |
| ENST00000407775.6:c.533-4A>T (ZFPM2) | ENSP00000384179.2:n.533-4A>T | |
| ENST00000511341.6:n.1273-4A>T (ZFPM2) | ||
| ENST00000517361.1:c.137-4A>T (ZFPM2) | ENSP00000428720.1:n.137-4A>T | |
| ENST00000520492.5:c.137-4A>T (ZFPM2) | ENSP00000430757.1:n.137-4A>T | |
| ENST00000522296.1:n.47-4A>T (ZFPM2) | ||
| NM_012082.3:c.533-4A>T (ZFPM2) | NP_036214.2:n.533-4A>T | |
| NR_125796.1:n.298-1118T>A (ZFPM2-AS1) | ||
| NR_125797.1:n.309-6231T>A (ZFPM2-AS1) | ||
| XM_011516946.1:c.572-4A>T (ZFPM2) | XP_011515248.1:n.572-4A>T | |
| XM_011516947.1:c.503-4A>T (ZFPM2) | XP_011515249.1:n.503-4A>T | |
| XM_011516948.1:c.374-4A>T (ZFPM2) | XP_011515250.1:n.374-4A>T | |
| XM_011516949.1:c.572-10010A>T (ZFPM2) | XP_011515251.1:n.572-10010A>T | |
| NM_001362836.1:c.374-4A>T (ZFPM2) | NP_001349765.1:n.374-4A>T | |
| NM_001362837.1:c.137-4A>T (ZFPM2) | NP_001349766.1:n.137-4A>T | |
| XM_011516947.3:c.503-4A>T (ZFPM2) | XP_011515249.1:n.503-4A>T | |
| NM_012082.4:c.533-4A>T (ZFPM2) MANE Select | NP_036214.2:n.533-4A>T | |
| NM_001362836.2:c.374-4A>T (ZFPM2) | NP_001349765.1:n.374-4A>T | |
| NM_001362837.2:c.137-4A>T (ZFPM2) | NP_001349766.1:n.137-4A>T |