gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32366452 (NFE)
Genomes Max Group AF
0.32366452 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5242916T>G , CM000673.2:g.5242916T>G | GRCh38 |
| NC_000011.9:g.5264146T>G , CM000673.1:g.5264146T>G | GRCh37 |
| NC_000011.8:g.5220722T>G | NCBI36 |
| NG_000007.3:g.54700A>C | |
| NG_063112.2:g.5742A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454892.2:n.307+190A>C (HBBP1) | ||
| ENST00000643122.1:c.-29+534A>C (HBD) | ENSP00000494708.1:n.-29+534A>C | |
| ENST00000433329.1:n.311+190A>C (HBBP1) | ||
| ENST00000454892.1:n.161+190A>C (HBBP1) | ||
| NR_001589.1:n.366+190A>C (HBBP1) |