gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048368 (AFR)
Genomes Max Group AF
0.00049791 (AFR)
Exomes Max Group AF
0.00034849 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717760C>T , CM000674.2:g.12717760C>T | GRCh38 |
| NC_000012.11:g.12870694C>T , CM000674.1:g.12870694C>T | GRCh37 |
| NC_000012.10:g.12761961C>T | NCBI36 |
| NG_016341.1:g.5393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-80C>T (CDKN1B) | ENSP00000507272.1:n.-80C>T | |
| ENST00000682620.1:n.1631-1065C>T (CDKN1B) | ||
| ENST00000684771.1:n.585-1065C>T (CDKN1B) | ||
| ENST00000228872.9:c.-80C>T (CDKN1B) MANE Select | ENSP00000228872.4:n.-80C>T | |
| ENST00000228872.8:c.-80C>T (CDKN1B) | ENSP00000228872.4:n.-80C>T | |
| ENST00000477087.1:n.155-1065C>T (CDKN1B) | ||
| NM_004064.4:c.-80C>T (CDKN1B) | NP_004055.1:n.-80C>T | |
| XM_011520623.3:c.-2254G>A (GPR19) | XP_011518925.1:n.-2254G>A | |
| XM_017019216.2:c.-2282G>A (GPR19) | XP_016874705.1:n.-2282G>A | |
| NM_004064.5:c.-80C>T (CDKN1B) MANE Select | NP_004055.1:n.-80C>T |