gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71067829 (NFE)
Genomes Max Group AF
0.71067829 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29195855G>A , CM000683.2:g.29195855G>A | GRCh38 |
| NC_000021.8:g.30568176G>A , CM000683.1:g.30568176G>A | GRCh37 |
| NC_000021.7:g.29490047G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546469.5:c.-297+1595G>A (BACH1) | ENSP00000449383.1:n.-297+1595G>A | |
| ENST00000547141.5:c.-127+1595G>A (BACH1) | ENSP00000448663.1:n.-127+1595G>A | |
| ENST00000548219.5:c.-61+1595G>A (BACH1) | ENSP00000447332.1:n.-61+1595G>A | |
| ENST00000550131.5:c.-161+1595G>A (BACH1) | ENSP00000449316.1:n.-161+1595G>A | |
| NR_027072.2:n.767+1595G>A (LINC00189) |