gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44377808 (EAS)
Genomes Max Group AF
0.44377808 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33574761A>G , CM000668.2:g.33574761A>G | GRCh38 |
| NC_000006.11:g.33542538A>G , CM000668.1:g.33542538A>G | GRCh37 |
| NC_000006.10:g.33650516A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374467.4:c.350+537T>C (BAK1) MANE Select | ENSP00000363591.3:n.350+537T>C | |
| ENST00000360661.9:c.290+537T>C (BAK1) | ENSP00000353878.6:n.290+537T>C | |
| ENST00000374467.3:c.350+537T>C (BAK1) | ENSP00000363591.3:n.350+537T>C | |
| ENST00000442998.6:c.351-236T>C (BAK1) | ENSP00000391258.2:n.351-236T>C | |
| ENST00000612409.1:n.249-590A>G (GGNBP1) | ||
| NM_001188.3:c.350+537T>C (BAK1) | NP_001179.1:n.350+537T>C | |
| XM_011514779.1:c.350+537T>C (BAK1) | XP_011513081.1:n.350+537T>C | |
| XM_011514780.1:c.173+537T>C (BAK1) | XP_011513082.1:n.173+537T>C | |
| XM_011514779.3:c.350+537T>C (BAK1) | XP_011513081.1:n.350+537T>C | |
| NM_001188.4:c.350+537T>C (BAK1) MANE Select | NP_001179.1:n.350+537T>C |