gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83480599 (NFE)
Genomes Max Group AF
0.83476787 (NFE)
Exomes Max Group AF
0.7118147 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111299555G>A , CM000668.2:g.111299555G>A | GRCh38 |
| NC_000006.11:g.111620758G>A , CM000668.1:g.111620758G>A | GRCh37 |
| NC_000006.10:g.111727451G>A | NCBI36 |
| NG_053000.1:g.189161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368802.8:c.*461C>T (REV3L) MANE Select | ENSP00000357792.3:n.*461C>T | |
| ENST00000666581.2:n.277+21397G>A (MFSD4B) | ||
| ENST00000673245.1:n.273+3780G>A (MFSD4B) | ||
| ENST00000673446.1:n.179+31718G>A (MFSD4B) | ||
| ENST00000358835.7:c.*461C>T (REV3L) | ENSP00000351697.3:n.*461C>T | |
| ENST00000368802.7:c.*461C>T (REV3L) | ENSP00000357792.3:n.*461C>T | |
| ENST00000368805.5:c.*461C>T (REV3L) | ENSP00000357795.1:n.*461C>T | |
| ENST00000422377.5:c.*9838C>T (REV3L) | ENSP00000393184.1:n.*9838C>T | |
| ENST00000434009.5:c.*9945C>T (REV3L) | ENSP00000391605.1:n.*9945C>T | |
| ENST00000435970.5:c.*461C>T (REV3L) | ENSP00000402003.1:n.*461C>T | |
| ENST00000462119.5:n.1991C>T (REV3L) | ||
| NM_001286431.1:c.*461C>T (REV3L) | NP_001273360.1:n.*461C>T | |
| NM_001286432.1:c.*461C>T (REV3L) | NP_001273361.1:n.*461C>T | |
| NM_002912.4:c.*461C>T (REV3L) | NP_002903.3:n.*461C>T | |
| XM_006715543.2:c.*461C>T (REV3L) | XP_006715606.1:n.*461C>T | |
| XM_006715544.2:c.*461C>T (REV3L) | XP_006715607.1:n.*461C>T | |
| XM_011536028.1:c.*461C>T (REV3L) | XP_011534330.1:n.*461C>T | |
| XM_011536029.1:c.*461C>T (REV3L) | XP_011534331.1:n.*461C>T | |
| XM_011536030.1:c.*461C>T (REV3L) | XP_011534332.1:n.*461C>T | |
| XM_011536031.1:c.*461C>T (REV3L) | XP_011534333.1:n.*461C>T | |
| XM_011536032.1:c.*461C>T (REV3L) | XP_011534334.1:n.*461C>T | |
| XR_942871.1:n.2045+21397G>A | ||
| XM_011536028.2:c.*461C>T (REV3L) | XP_011534330.1:n.*461C>T | |
| XM_011536029.3:c.*461C>T (REV3L) | XP_011534331.1:n.*461C>T | |
| XM_011536030.3:c.*461C>T (REV3L) | XP_011534332.1:n.*461C>T | |
| XM_011536031.3:c.*461C>T (REV3L) | XP_011534333.1:n.*461C>T | |
| XM_011536032.2:c.*461C>T (REV3L) | XP_011534334.1:n.*461C>T | |
| XM_017011152.2:c.*461C>T (REV3L) | XP_016866641.1:n.*461C>T | |
| XM_017011153.1:c.*461C>T (REV3L) | XP_016866642.1:n.*461C>T | |
| XM_017011154.1:c.*461C>T (REV3L) | XP_016866643.1:n.*461C>T | |
| XR_001743550.2:n.10040C>T (REV3L) | ||
| XR_001743552.2:n.9962C>T (REV3L) | ||
| XR_001743553.2:n.10358C>T (REV3L) | ||
| XR_001743555.2:n.10280C>T (REV3L) | ||
| XR_001743556.2:n.10087C>T (REV3L) | ||
| XR_002956293.1:n.11298C>T (REV3L) | ||
| NM_001286431.2:c.*461C>T (REV3L) | NP_001273360.1:n.*461C>T | |
| NM_001372078.1:c.*461C>T (REV3L) MANE Select | NP_001359007.1:n.*461C>T | |
| NM_001286432.2:c.*461C>T (REV3L) | NP_001273361.1:n.*461C>T | |
| NM_002912.5:c.*461C>T (REV3L) | NP_002903.3:n.*461C>T |