Linked Data
dbSNP Id:
rs144295468
gnomAD v2:
6-31330899-A-G
gnomAD v3:
6-31363122-A-G
gnomAD v4:
6-31363122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31363122A>G , CM000668.2:g.31363122A>G | GRCh38 |
| NC_000006.11:g.31330899A>G , CM000668.1:g.31330899A>G | GRCh37 |
| NC_000006.10:g.31438878A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1270+2621T>C (HLA-B) | ||
| ENST00000481849.6:n.1270+2621T>C (HLA-B) | ||
| ENST00000497377.6:n.1270+2621T>C (HLA-B) | ||
| ENST00000696559.1:c.-204+2621T>C (HLA-B) | ENSP00000512717.1:n.-204+2621T>C | |
| ENST00000696560.1:c.-204+2621T>C (HLA-B) | ENSP00000512718.1:n.-204+2621T>C | |
| ENST00000696561.1:c.-299-108T>C (HLA-B) | ENSP00000512719.1:n.-299-108T>C | |
| ENST00000696562.1:c.-136+2621T>C (HLA-B) | ENSP00000512720.1:n.-136+2621T>C | |
| ENST00000696690.1:n.1613-108T>C (DHFRP2) | ||
| ENST00000696691.1:n.2235-108T>C (DHFRP2) | ||
| ENST00000696692.1:n.1124-108T>C (DHFRP2) |