dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09753954 (AFR)
Genomes Max Group AF
0.09748436 (AFR)
Exomes Max Group AF
0.09587864 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33575339C>T , CM000668.2:g.33575339C>T | GRCh38 |
| NC_000006.11:g.33543116C>T , CM000668.1:g.33543116C>T | GRCh37 |
| NC_000006.10:g.33651094C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374467.4:c.309G>A (BAK1) MANE Select | ENSP00000363591.3:p.Thr103= | |
| ENST00000360661.9:c.249G>A (BAK1) | ENSP00000353878.6:p.Thr83= | |
| ENST00000374467.3:c.309G>A (BAK1) | ENSP00000363591.3:p.Thr103= | |
| ENST00000442998.6:c.309G>A (BAK1) | ENSP00000391258.2:p.Thr103= | |
| ENST00000612409.1:n.249-12C>T (GGNBP1) | ||
| NM_001188.3:c.309G>A (BAK1) | NP_001179.1:p.Thr103= | |
| XM_011514779.1:c.309G>A (BAK1) | XP_011513081.1:p.Thr103= | |
| XM_011514780.1:c.132G>A (BAK1) | XP_011513082.1:p.Thr44= | |
| XM_011514779.3:c.309G>A (BAK1) | XP_011513081.1:p.Thr103= | |
| NM_001188.4:c.309G>A (BAK1) MANE Select | NP_001179.1:p.Thr103= |