Revel Score:
ENST00000308641 (MANE Select)
0.137
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16401829 (AFR)
Genomes Max Group AF
0.15961499 (AFR)
Exomes Max Group AF
0.16722923 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183647749C>T , CM000663.2:g.183647749C>T | GRCh38 |
| NC_000001.10:g.183616884C>T , CM000663.1:g.183616884C>T | GRCh37 |
| NC_000001.9:g.181883507C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308641.6:c.1033G>A (APOBEC4) MANE Select | ENSP00000310622.4:p.Val345Met | |
| ENST00000304685.8:c.-33+11248C>T (RGL1) | ENSP00000303192.3:n.-33+11248C>T | |
| ENST00000308641.5:c.1033G>A (APOBEC4) | ENSP00000310622.4:p.Val345Met | |
| ENST00000481562.1:n.294G>A (APOBEC4) | ||
| NM_001297669.1:c.-143+11248C>T (RGL1) | NP_001284598.1:n.-143+11248C>T | |
| NM_001297670.1:c.-33+11248C>T (RGL1) | NP_001284599.1:n.-33+11248C>T | |
| NM_015149.4:c.-33+11248C>T (RGL1) | NP_055964.3:n.-33+11248C>T | |
| NM_203454.2:c.1033G>A (APOBEC4) | NP_982279.1:p.Val345Met | |
| XM_011509339.1:c.-143+11248C>T (RGL1) | XP_011507641.1:n.-143+11248C>T | |
| XM_011509340.1:c.-331+11248C>T (RGL1) | XP_011507642.1:n.-331+11248C>T | |
| XM_011509341.1:c.-33+11248C>T (RGL1) | XP_011507643.1:n.-33+11248C>T | |
| XM_011509342.1:c.-33+11248C>T (RGL1) | XP_011507644.1:n.-33+11248C>T | |
| XM_011509339.3:c.-143+11248C>T (RGL1) | XP_011507641.1:n.-143+11248C>T | |
| XM_011509342.2:c.-33+11248C>T (RGL1) | XP_011507644.1:n.-33+11248C>T | |
| NM_203454.3:c.1033G>A (APOBEC4) MANE Select | NP_982279.1:p.Val345Met | |
| NM_001297669.2:c.-143+11248C>T (RGL1) | NP_001284598.1:n.-143+11248C>T | |
| NM_001297670.2:c.-33+11248C>T (RGL1) | NP_001284599.1:n.-33+11248C>T | |
| NM_015149.5:c.-33+11248C>T (RGL1) | NP_055964.3:n.-33+11248C>T | |
| NM_001297669.3:c.-143+11248C>T (RGL1) | NP_001284598.1:n.-143+11248C>T | |
| NM_001297670.3:c.-33+11248C>T (RGL1) | NP_001284599.1:n.-33+11248C>T | |
| NM_015149.6:c.-33+11248C>T (RGL1) | NP_055964.3:n.-33+11248C>T |