gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59433601 (AMR)
Genomes Max Group AF
0.59433601 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.17148802A>G , CM000667.2:g.17148802A>G | GRCh38 |
| NC_000005.9:g.17148911A>G , CM000667.1:g.17148911A>G | GRCh37 |
| NC_000005.8:g.17201911A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606445.1:c.-73+59641A>G (BASP1) | ENSP00000476090.1:n.-73+59641A>G | |
| NR_027253.1:n.1443+13667T>C (BASP1-AS1) |