gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64711357 (EAS)
Genomes Max Group AF
0.64711357 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42867668G>A , CM000665.2:g.42867668G>A | GRCh38 |
| NC_000003.11:g.42909160G>A , CM000665.1:g.42909160G>A | GRCh37 |
| NC_000003.10:g.42884164G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426937.5:c.-163-41125G>A (KRBOX1) | ENSP00000413859.1:n.-163-41125G>A | |
| ENST00000437102.1:c.1347+6802C>T (CYP8B1) | ENSP00000404499.1:n.1347+6802C>T | |
| ENST00000451200.6:n.168+47957G>A | ||
| ENST00000460855.5:n.471+2809G>A (ACKR2) | ||
| ENST00000498111.5:n.546+2809G>A (ACKR2) |