Linked Data
ClinVar Variation Id:
452337
ClinVar RCV Id:
RCV000520007
dbSNP Id:
rs187043152
ExAC:
8:106813942 G / T
gnomAD v2:
8-106813942-G-T
gnomAD v3:
8-105801714-G-T
gnomAD v4:
8-105801714-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105801714G>T , CM000670.2:g.105801714G>T | GRCh38 |
| NC_000008.10:g.106813942G>T , CM000670.1:g.106813942G>T | GRCh37 |
| NC_000008.9:g.106883118G>T | NCBI36 |
| NG_011723.1:g.487796G>T | |
| NG_011723.2:g.487796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.1632G>T (ZFPM2) MANE Select | ENSP00000384179.2:p.Met544Ile | |
| ENST00000407775.6:c.1632G>T (ZFPM2) | ENSP00000384179.2:p.Met544Ile | |
| ENST00000517361.1:c.1236G>T (ZFPM2) | ENSP00000428720.1:p.Met412Ile | |
| ENST00000520492.5:c.1236G>T (ZFPM2) | ENSP00000430757.1:p.Met412Ile | |
| ENST00000522296.1:n.1426G>T (ZFPM2) | ||
| NM_012082.3:c.1632G>T (ZFPM2) | NP_036214.2:p.Met544Ile | |
| NR_125796.1:n.180-3272C>A (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3272C>A (ZFPM2-AS1) | ||
| XM_011516946.1:c.1671G>T (ZFPM2) | XP_011515248.1:p.Met557Ile | |
| XM_011516947.1:c.1602G>T (ZFPM2) | XP_011515249.1:p.Met534Ile | |
| XM_011516948.1:c.1473G>T (ZFPM2) | XP_011515250.1:p.Met491Ile | |
| XM_011516949.1:c.1464G>T (ZFPM2) | XP_011515251.1:p.Met488Ile | |
| NM_001362836.1:c.1473G>T (ZFPM2) | NP_001349765.1:p.Met491Ile | |
| NM_001362837.1:c.1236G>T (ZFPM2) | NP_001349766.1:p.Met412Ile | |
| XM_011516947.3:c.1602G>T (ZFPM2) | XP_011515249.1:p.Met534Ile | |
| NM_012082.4:c.1632G>T (ZFPM2) MANE Select | NP_036214.2:p.Met544Ile | |
| NM_001362836.2:c.1473G>T (ZFPM2) | NP_001349765.1:p.Met491Ile | |
| NM_001362837.2:c.1236G>T (ZFPM2) | NP_001349766.1:p.Met412Ile |