COSMIC:
COSM3757370 (not active)
Revel Score:
ENST00000215057 (MANE Select)
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62255305 (AFR)
Genomes Max Group AF
0.61046723 (AFR)
Exomes Max Group AF
0.63320709 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58563286T>C , CM000681.2:g.58563286T>C | GRCh38 |
| NC_000019.9:g.59074653T>C , CM000681.1:g.59074653T>C | GRCh37 |
| NC_000019.8:g.63766465T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215057.7:c.991A>G (MZF1) MANE Select | ENSP00000215057.1:p.Ile331Val | |
| ENST00000215057.6:c.991A>G (MZF1) | ENSP00000215057.1:p.Ile331Val | |
| ENST00000594234.5:c.773-26A>G (MZF1) | ENSP00000469378.1:n.773-26A>G | |
| ENST00000599369.5:c.991A>G (MZF1) | ENSP00000469493.1:p.Ile331Val | |
| ENST00000600004.1:n.1328A>G (MZF1) | ||
| NM_001267033.1:c.773-26A>G (MZF1) | NP_001253962.1:n.773-26A>G | |
| NM_003422.2:c.991A>G (MZF1) | NP_003413.2:p.Ile331Val | |
| NM_198055.1:c.991A>G (MZF1) | NP_932172.1:p.Ile331Val | |
| NR_027334.2:n.224+3877T>C (MZF1-AS1) | ||
| XM_005259204.2:c.1114A>G (MZF1) | XP_005259261.1:p.Ile372Val | |
| XM_006723359.2:c.991A>G (MZF1) | XP_006723422.1:p.Ile331Val | |
| XM_011527264.1:c.1081A>G (MZF1) | XP_011525566.1:p.Ile361Val | |
| XM_011527265.1:c.991A>G (MZF1) | XP_011525567.1:p.Ile331Val | |
| XM_011527266.1:c.946A>G (MZF1) | XP_011525568.1:p.Ile316Val | |
| XM_005259204.3:c.1114A>G (MZF1) | XP_005259261.1:p.Ile372Val | |
| XM_011527264.3:c.1081A>G (MZF1) | XP_011525566.1:p.Ile361Val | |
| XM_017027206.1:c.139A>G (MZF1) | XP_016882695.1:p.Ile47Val | |
| XM_024451689.1:c.1114A>G (MZF1) | XP_024307457.1:p.Ile372Val | |
| NM_001267033.2:c.773-26A>G (MZF1) | NP_001253962.1:n.773-26A>G | |
| NM_198055.2:c.991A>G (MZF1) MANE Select | NP_932172.1:p.Ile331Val | |
| NM_003422.3:c.991A>G (MZF1) | NP_003413.2:p.Ile331Val |