Linked Data
ClinVar Variation Id:
450054
ClinVar RCV Id:
RCV000522745
dbSNP Id:
rs1194484043
gnomAD v2:
8-106813830-T-C
gnomAD v3:
8-105801602-T-C
gnomAD v4:
8-105801602-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801602T>C , CM000670.2:g.105801602T>C | GRCh38 |
| NC_000008.10:g.106813830T>C , CM000670.1:g.106813830T>C | GRCh37 |
| NC_000008.9:g.106883006T>C | NCBI36 |
| NG_011723.1:g.487684T>C | |
| NG_011723.2:g.487684T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1520T>C (ZFPM2) MANE Select | ENSP00000384179.2:p.Ile507Thr | |
| ENST00000407775.6:c.1520T>C (ZFPM2) | ENSP00000384179.2:p.Ile507Thr | |
| ENST00000517361.1:c.1124T>C (ZFPM2) | ENSP00000428720.1:p.Ile375Thr | |
| ENST00000520492.5:c.1124T>C (ZFPM2) | ENSP00000430757.1:p.Ile375Thr | |
| ENST00000522296.1:n.1314T>C (ZFPM2) | ||
| NM_012082.3:c.1520T>C (ZFPM2) | NP_036214.2:p.Ile507Thr | |
| NR_125796.1:n.180-3160A>G (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3160A>G (ZFPM2-AS1) | ||
| XM_011516946.1:c.1559T>C (ZFPM2) | XP_011515248.1:p.Ile520Thr | |
| XM_011516947.1:c.1490T>C (ZFPM2) | XP_011515249.1:p.Ile497Thr | |
| XM_011516948.1:c.1361T>C (ZFPM2) | XP_011515250.1:p.Ile454Thr | |
| XM_011516949.1:c.1352T>C (ZFPM2) | XP_011515251.1:p.Ile451Thr | |
| NM_001362836.1:c.1361T>C (ZFPM2) | NP_001349765.1:p.Ile454Thr | |
| NM_001362837.1:c.1124T>C (ZFPM2) | NP_001349766.1:p.Ile375Thr | |
| XM_011516947.3:c.1490T>C (ZFPM2) | XP_011515249.1:p.Ile497Thr | |
| NM_012082.4:c.1520T>C (ZFPM2) MANE Select | NP_036214.2:p.Ile507Thr | |
| NM_001362836.2:c.1361T>C (ZFPM2) | NP_001349765.1:p.Ile454Thr | |
| NM_001362837.2:c.1124T>C (ZFPM2) | NP_001349766.1:p.Ile375Thr |