gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33572915T>G , CM000668.2:g.33572915T>G | GRCh38 |
| NC_000006.11:g.33540692T>G , CM000668.1:g.33540692T>G | GRCh37 |
| NC_000006.10:g.33648670T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374467.4:c.*888A>C (BAK1) MANE Select | ENSP00000363591.3:n.*888A>C | |
| ENST00000360661.9:c.*888A>C (BAK1) | ENSP00000353878.6:n.*888A>C | |
| ENST00000374467.3:c.*888A>C (BAK1) | ENSP00000363591.3:n.*888A>C | |
| ENST00000442998.6:c.*1082A>C (BAK1) | ENSP00000391258.2:n.*1082A>C | |
| ENST00000612409.1:n.248+2104T>G (GGNBP1) | ||
| NM_001188.3:c.*888A>C (BAK1) | NP_001179.1:n.*888A>C | |
| XM_011514779.1:c.*888A>C (BAK1) | XP_011513081.1:n.*888A>C | |
| XM_011514780.1:c.*888A>C (BAK1) | XP_011513082.1:n.*888A>C | |
| XM_011514779.3:c.*888A>C (BAK1) | XP_011513081.1:n.*888A>C | |
| NM_001188.4:c.*888A>C (BAK1) MANE Select | NP_001179.1:n.*888A>C |