gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3839743 (NFE)
Genomes Max Group AF
0.3839743 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31365526T>C , CM000668.2:g.31365526T>C | GRCh38 |
| NC_000006.11:g.31333303T>C , CM000668.1:g.31333303T>C | GRCh37 |
| NC_000006.10:g.31441282T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1270+217A>G (HLA-B) | ||
| ENST00000481849.6:n.1270+217A>G (HLA-B) | ||
| ENST00000497377.6:n.1270+217A>G (HLA-B) | ||
| ENST00000696559.1:c.-204+217A>G (HLA-B) | ENSP00000512717.1:n.-204+217A>G | |
| ENST00000696560.1:c.-204+217A>G (HLA-B) | ENSP00000512718.1:n.-204+217A>G | |
| ENST00000696561.1:c.-300+217A>G (HLA-B) | ENSP00000512719.1:n.-300+217A>G | |
| ENST00000696562.1:c.-136+217A>G (HLA-B) | ENSP00000512720.1:n.-136+217A>G | |
| ENST00000696632.1:n.1301-76A>G (DHFRP2) | ||
| ENST00000696690.1:n.1612+217A>G (DHFRP2) | ||
| ENST00000696691.1:n.1302-76A>G (DHFRP2) | ||
| ENST00000696692.1:n.191-76A>G (DHFRP2) |