gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15062125 (MID)
Genomes Max Group AF
0.13141538 (NFE)
Exomes Max Group AF
0.15553152 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36677689G>A , CM000668.2:g.36677689G>A | GRCh38 |
| NC_000006.11:g.36645466G>A , CM000668.1:g.36645466G>A | GRCh37 |
| NC_000006.10:g.36753444G>A | NCBI36 |
| NG_009364.1:g.4008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448526.6:c.-37-213G>A (CDKN1A) | ENSP00000409259.3:n.-37-213G>A | |
| ENST00000459970.1:n.44-99G>A (CDKN1A) | ||
| ENST00000615513.4:c.-6+1165G>A (CDKN1A) | ENSP00000482768.1:n.-6+1165G>A | |
| NM_001220777.1:c.-6+1165G>A (CDKN1A) | NP_001207706.1:n.-6+1165G>A | |
| NM_001291549.1:c.-141-7G>A (CDKN1A) | NP_001278478.1:n.-141-7G>A | |
| NM_078467.2:c.-37-213G>A (CDKN1A) | NP_510867.1:n.-37-213G>A | |
| NR_144384.1:n.871C>T (DINOL) | ||
| NM_001220777.2:c.-6+1165G>A (CDKN1A) | NP_001207706.1:n.-6+1165G>A | |
| NM_001291549.3:c.-141-7G>A (CDKN1A) | NP_001278478.1:n.-141-7G>A | |
| NM_001374509.1:c.-49-99G>A (CDKN1A) | NP_001361438.1:n.-49-99G>A | |
| NM_001374510.1:c.34+1119G>A (CDKN1A) | NP_001361439.1:n.34+1119G>A | |
| NM_078467.3:c.-37-213G>A (CDKN1A) | NP_510867.1:n.-37-213G>A |