gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98347549 (NFE)
Genomes Max Group AF
0.98347549 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68567230T>C , CM000666.2:g.68567230T>C | GRCh38 |
| NC_000004.11:g.69432948T>C , CM000666.1:g.69432948T>C | GRCh37 |
| NC_000004.10:g.69115543T>C | NCBI36 |
| NG_017033.1:g.6298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317746.3:c.724+531A>G (UGT2B17) MANE Select | ENSP00000320401.2:n.724+531A>G | |
| ENST00000684088.1:c.-26-1510A>G (UGT2B17) | ENSP00000507374.1:n.-26-1510A>G | |
| ENST00000317746.2:c.724+531A>G (UGT2B17) | ENSP00000320401.2:n.724+531A>G | |
| ENST00000616841.4:c.1733-29704A>G (UGT2B15) | ENSP00000482004.1:n.1733-29704A>G | |
| NM_001077.3:c.724+531A>G (UGT2B17) | NP_001068.1:n.724+531A>G | |
| XM_024454205.1:c.724+531A>G (UGT2B17) | XP_024309973.1:n.724+531A>G | |
| NM_001077.4:c.724+531A>G (UGT2B17) MANE Select | NP_001068.1:n.724+531A>G |