gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72962062 (MID)
Genomes Max Group AF
0.65288685 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68539507C>T , CM000666.2:g.68539507C>T | GRCh38 |
| NC_000004.11:g.69405225C>T , CM000666.1:g.69405225C>T | GRCh37 |
| NC_000004.10:g.69087820C>T | NCBI36 |
| NG_017033.1:g.34021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317746.3:c.1314-1603G>A (UGT2B17) MANE Select | ENSP00000320401.2:n.1314-1603G>A | |
| ENST00000317746.2:c.1314-1603G>A (UGT2B17) | ENSP00000320401.2:n.1314-1603G>A | |
| ENST00000616841.4:c.1733-1981G>A (UGT2B15) | ENSP00000482004.1:n.1733-1981G>A | |
| NM_001077.3:c.1314-1603G>A (UGT2B17) | NP_001068.1:n.1314-1603G>A | |
| XM_024454205.1:c.1314-1603G>A (UGT2B17) | XP_024309973.1:n.1314-1603G>A | |
| NM_001077.4:c.1314-1603G>A (UGT2B17) MANE Select | NP_001068.1:n.1314-1603G>A |