dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007039 (AFR)
Genomes Max Group AF
0.00007039 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68559644C>T , CM000666.2:g.68559644C>T | GRCh38 |
| NC_000004.11:g.69425362C>T , CM000666.1:g.69425362C>T | GRCh37 |
| NC_000004.10:g.69107957C>T | NCBI36 |
| NG_017033.1:g.13884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317746.3:c.1005+893G>A (UGT2B17) MANE Select | ENSP00000320401.2:n.1005+893G>A | |
| ENST00000684088.1:c.255+893G>A (UGT2B17) | ENSP00000507374.1:n.255+893G>A | |
| ENST00000317746.2:c.1005+893G>A (UGT2B17) | ENSP00000320401.2:n.1005+893G>A | |
| ENST00000616841.4:c.1733-22118G>A (UGT2B15) | ENSP00000482004.1:n.1733-22118G>A | |
| NM_001077.3:c.1005+893G>A (UGT2B17) | NP_001068.1:n.1005+893G>A | |
| XM_024454205.1:c.1005+893G>A (UGT2B17) | XP_024309973.1:n.1005+893G>A | |
| NM_001077.4:c.1005+893G>A (UGT2B17) MANE Select | NP_001068.1:n.1005+893G>A |