gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31700409 (NFE)
Genomes Max Group AF
0.31700409 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5242453C>T , CM000673.2:g.5242453C>T | GRCh38 |
| NC_000011.9:g.5263683C>T , CM000673.1:g.5263683C>T | GRCh37 |
| NC_000011.8:g.5220259C>T | NCBI36 |
| NG_000007.3:g.55163G>A | |
| NG_063112.2:g.6205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454892.2:n.308-206G>A (HBBP1) | ||
| ENST00000643122.1:c.-29+997G>A (HBD) | ENSP00000494708.1:n.-29+997G>A | |
| ENST00000433329.1:n.312-206G>A (HBBP1) | ||
| ENST00000454892.1:n.162-206G>A (HBBP1) | ||
| NR_001589.1:n.367-206G>A (HBBP1) |