Linked Data
ClinVar Variation Id:
500719
ClinVar RCV Id:
RCV000596322
dbSNP Id:
rs1554583012
gnomAD v4:
8-105801448-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801448A>T , CM000670.2:g.105801448A>T | GRCh38 |
| NC_000008.10:g.106813676A>T , CM000670.1:g.106813676A>T | GRCh37 |
| NC_000008.9:g.106882852A>T | NCBI36 |
| NG_011723.1:g.487530A>T | |
| NG_011723.2:g.487530A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1366A>T (ZFPM2) MANE Select | ENSP00000384179.2:p.Ile456Leu | |
| ENST00000407775.6:c.1366A>T (ZFPM2) | ENSP00000384179.2:p.Ile456Leu | |
| ENST00000517361.1:c.970A>T (ZFPM2) | ENSP00000428720.1:p.Ile324Leu | |
| ENST00000520492.5:c.970A>T (ZFPM2) | ENSP00000430757.1:p.Ile324Leu | |
| ENST00000522296.1:n.1160A>T (ZFPM2) | ||
| NM_012082.3:c.1366A>T (ZFPM2) | NP_036214.2:p.Ile456Leu | |
| NR_125796.1:n.180-3006T>A (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3006T>A (ZFPM2-AS1) | ||
| XM_011516946.1:c.1405A>T (ZFPM2) | XP_011515248.1:p.Ile469Leu | |
| XM_011516947.1:c.1336A>T (ZFPM2) | XP_011515249.1:p.Ile446Leu | |
| XM_011516948.1:c.1207A>T (ZFPM2) | XP_011515250.1:p.Ile403Leu | |
| XM_011516949.1:c.1198A>T (ZFPM2) | XP_011515251.1:p.Ile400Leu | |
| NM_001362836.1:c.1207A>T (ZFPM2) | NP_001349765.1:p.Ile403Leu | |
| NM_001362837.1:c.970A>T (ZFPM2) | NP_001349766.1:p.Ile324Leu | |
| XM_011516947.3:c.1336A>T (ZFPM2) | XP_011515249.1:p.Ile446Leu | |
| NM_012082.4:c.1366A>T (ZFPM2) MANE Select | NP_036214.2:p.Ile456Leu | |
| NM_001362836.2:c.1207A>T (ZFPM2) | NP_001349765.1:p.Ile403Leu | |
| NM_001362837.2:c.970A>T (ZFPM2) | NP_001349766.1:p.Ile324Leu |