gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08261256 (SAS)
Genomes Max Group AF
0.08261256 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31362069G>T , CM000668.2:g.31362069G>T | GRCh38 |
| NC_000006.11:g.31329846G>T , CM000668.1:g.31329846G>T | GRCh37 |
| NC_000006.10:g.31437825G>T | NCBI36 |
| NG_023187.1:g.144C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1270+3674C>A (HLA-B) | ||
| ENST00000481849.6:n.1270+3674C>A (HLA-B) | ||
| ENST00000497377.6:n.1270+3674C>A (HLA-B) | ||
| ENST00000696559.1:c.-204+3674C>A (HLA-B) | ENSP00000512717.1:n.-204+3674C>A | |
| ENST00000696560.1:c.-204+3674C>A (HLA-B) | ENSP00000512718.1:n.-204+3674C>A | |
| ENST00000696561.1:c.-204+850C>A (HLA-B) | ENSP00000512719.1:n.-204+850C>A | |
| ENST00000696562.1:c.-136+3674C>A (HLA-B) | ENSP00000512720.1:n.-136+3674C>A | |
| ENST00000696690.1:n.2558C>A (DHFRP2) | ||
| ENST00000696691.1:n.3180C>A (DHFRP2) |