Linked Data
dbSNP Id:
rs769926255
ExAC:
8:106813893 T / G
gnomAD v2:
8-106813893-T-G
gnomAD v4:
8-105801665-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801665T>G , CM000670.2:g.105801665T>G | GRCh38 |
| NC_000008.10:g.106813893T>G , CM000670.1:g.106813893T>G | GRCh37 |
| NC_000008.9:g.106883069T>G | NCBI36 |
| NG_011723.1:g.487747T>G | |
| NG_011723.2:g.487747T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1583T>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Leu528Arg | |
| ENST00000407775.6:c.1583T>G (ZFPM2) | ENSP00000384179.2:p.Leu528Arg | |
| ENST00000517361.1:c.1187T>G (ZFPM2) | ENSP00000428720.1:p.Leu396Arg | |
| ENST00000520492.5:c.1187T>G (ZFPM2) | ENSP00000430757.1:p.Leu396Arg | |
| ENST00000522296.1:n.1377T>G (ZFPM2) | ||
| NM_012082.3:c.1583T>G (ZFPM2) | NP_036214.2:p.Leu528Arg | |
| NR_125796.1:n.180-3223A>C (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3223A>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.1622T>G (ZFPM2) | XP_011515248.1:p.Leu541Arg | |
| XM_011516947.1:c.1553T>G (ZFPM2) | XP_011515249.1:p.Leu518Arg | |
| XM_011516948.1:c.1424T>G (ZFPM2) | XP_011515250.1:p.Leu475Arg | |
| XM_011516949.1:c.1415T>G (ZFPM2) | XP_011515251.1:p.Leu472Arg | |
| NM_001362836.1:c.1424T>G (ZFPM2) | NP_001349765.1:p.Leu475Arg | |
| NM_001362837.1:c.1187T>G (ZFPM2) | NP_001349766.1:p.Leu396Arg | |
| XM_011516947.3:c.1553T>G (ZFPM2) | XP_011515249.1:p.Leu518Arg | |
| NM_012082.4:c.1583T>G (ZFPM2) MANE Select | NP_036214.2:p.Leu528Arg | |
| NM_001362836.2:c.1424T>G (ZFPM2) | NP_001349765.1:p.Leu475Arg | |
| NM_001362837.2:c.1187T>G (ZFPM2) | NP_001349766.1:p.Leu396Arg |