gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001918 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.17215335G>T , CM000667.2:g.17215335G>T | GRCh38 |
| NC_000005.9:g.17215444G>T , CM000667.1:g.17215444G>T | GRCh37 |
| NC_000005.8:g.17268444G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606445.1:c.-10+3153G>T (BASP1) | ENSP00000476090.1:n.-10+3153G>T | |
| NR_027253.1:n.1346+742C>A (BASP1-AS1) |