COSMIC:
COSM438891 (not active)
COSM438892 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18806254 (AFR)
Genomes Max Group AF
0.18806757 (AFR)
Exomes Max Group AF
0.18565218 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17278895G>A , CM000681.2:g.17278895G>A | GRCh38 |
| NC_000019.9:g.17389704G>A , CM000681.1:g.17389704G>A | GRCh37 |
| NC_000019.8:g.17250704G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598188.6:c.837G>A (BABAM1) MANE Select | ENSP00000471605.1:p.Lys279= | |
| ENST00000359435.8:c.837G>A (BABAM1) | ENSP00000352408.3:p.Lys279= | |
| ENST00000447614.6:c.612G>A (BABAM1) | ENSP00000407826.3:p.Lys204= | |
| ENST00000594247.5:c.*498+1551G>A (BABAM1) | ENSP00000469527.1:n.*498+1551G>A | |
| ENST00000595632.5:c.612G>A (BABAM1) | ENSP00000468834.1:p.Lys204= | |
| ENST00000596542.1:c.*400+1986G>A | ENSP00000469159.2:n.*400+1986G>A | |
| ENST00000598188.5:c.837G>A (BABAM1) | ENSP00000471605.1:p.Lys279= | |
| ENST00000598309.1:c.-201+3641C>T (USHBP1) | ENSP00000471680.1:n.-201+3641C>T | |
| ENST00000598382.1:n.335G>A (BABAM1) | ||
| ENST00000598567.1:c.232-142G>A (BABAM1) | ||
| ENST00000601043.5:c.837G>A (BABAM1) | ENSP00000470920.1:p.Lys279= | |
| ENST00000601232.1:c.243G>A (BABAM1) | ENSP00000470295.1:n.243G>A | |
| NM_001033549.2:c.837G>A (BABAM1) | NP_001028721.1:p.Lys279= | |
| NM_001288756.1:c.837G>A (BABAM1) | NP_001275685.1:p.Lys279= | |
| NM_001288757.1:c.612G>A (BABAM1) | NP_001275686.1:p.Lys204= | |
| NM_014173.3:c.837G>A (BABAM1) | NP_054892.2:p.Lys279= | |
| NM_014173.4:c.837G>A (BABAM1) MANE Select | NP_054892.2:p.Lys279= | |
| NM_001033549.3:c.837G>A (BABAM1) | NP_001028721.1:p.Lys279= | |
| NM_001288756.2:c.837G>A (BABAM1) | NP_001275685.1:p.Lys279= | |
| NM_001288757.2:c.612G>A (BABAM1) | NP_001275686.1:p.Lys204= |