Linked Data
dbSNP Id:
rs13327941
gnomAD v2:
4-69422145-C-A
gnomAD v3:
4-68556427-C-A
gnomAD v4:
4-68556427-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68556427C>A , CM000666.2:g.68556427C>A | GRCh38 |
| NC_000004.11:g.69422145C>A , CM000666.1:g.69422145C>A | GRCh37 |
| NC_000004.10:g.69104740C>A | NCBI36 |
| NG_017033.1:g.17101G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317746.3:c.1005+4110G>T (UGT2B17) MANE Select | ENSP00000320401.2:n.1005+4110G>T | |
| ENST00000684088.1:c.255+4110G>T (UGT2B17) | ENSP00000507374.1:n.255+4110G>T | |
| ENST00000317746.2:c.1005+4110G>T (UGT2B17) | ENSP00000320401.2:n.1005+4110G>T | |
| ENST00000616841.4:c.1733-18901G>T (UGT2B15) | ENSP00000482004.1:n.1733-18901G>T | |
| NM_001077.3:c.1005+4110G>T (UGT2B17) | NP_001068.1:n.1005+4110G>T | |
| XM_024454205.1:c.1005+4110G>T (UGT2B17) | XP_024309973.1:n.1005+4110G>T | |
| NM_001077.4:c.1005+4110G>T (UGT2B17) MANE Select | NP_001068.1:n.1005+4110G>T |