gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50621122 (AFR)
Genomes Max Group AF
0.50621122 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.17792325A>G , CM000683.2:g.17792325A>G | GRCh38 |
| NC_000021.8:g.19164642A>G , CM000683.1:g.19164642A>G | GRCh37 |
| NC_000021.7:g.18086513A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284881.9:c.*1090T>C (C21orf91) MANE Select | ENSP00000284881.4:n.*1090T>C | |
| ENST00000284881.8:c.*1090T>C (C21orf91) | ENSP00000284881.4:n.*1090T>C | |
| NM_001100420.1:c.*1090T>C (C21orf91) | NP_001093890.1:n.*1090T>C | |
| NM_001100421.1:c.*1255T>C (C21orf91) | NP_001093891.1:n.*1255T>C | |
| NM_017447.3:c.*1090T>C (C21orf91) | NP_059143.3:n.*1090T>C | |
| NR_038870.1:n.33+152T>C (C21orf91-OT1) | ||
| NR_038871.1:n.33+152T>C (C21orf91-OT1) | ||
| NM_001100420.2:c.*1090T>C (C21orf91) MANE Select | NP_001093890.1:n.*1090T>C | |
| NM_001100421.2:c.*1255T>C (C21orf91) | NP_001093891.1:n.*1255T>C | |
| NM_017447.4:c.*1090T>C (C21orf91) | NP_059143.3:n.*1090T>C |