gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96865765 (AFR)
Genomes Max Group AF
0.96865765 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36140267A>G , CM000683.2:g.36140267A>G | GRCh38 |
| NC_000021.8:g.37512565A>G , CM000683.1:g.37512565A>G | GRCh37 |
| NC_000021.7:g.36434435A>G | NCBI36 |
| NG_052818.1:g.10367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290354.6:c.397+2335A>G (CBR3) MANE Select | ENSP00000290354.5:n.397+2335A>G | |
| ENST00000290354.5:c.397+2335A>G (CBR3) | ENSP00000290354.5:n.397+2335A>G | |
| NM_001236.3:c.397+2335A>G (CBR3) | NP_001227.1:n.397+2335A>G | |
| NR_038892.1:n.192+5989T>C (CBR3-AS1) | ||
| NR_038893.1:n.192+5989T>C (CBR3-AS1) | ||
| XM_011529772.1:c.398-1657A>G (CBR3) | XP_011528074.1:n.398-1657A>G | |
| XM_011529772.2:c.398-1657A>G (CBR3) | XP_011528074.1:n.398-1657A>G | |
| NM_001236.4:c.397+2335A>G (CBR3) MANE Select | NP_001227.1:n.397+2335A>G |