Linked Data
dbSNP Id:
rs1288011558
gnomAD v2:
4-69425690-T-C
gnomAD v3:
4-68559972-T-C
gnomAD v4:
4-68559972-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68559972T>C , CM000666.2:g.68559972T>C | GRCh38 |
| NC_000004.11:g.69425690T>C , CM000666.1:g.69425690T>C | GRCh37 |
| NC_000004.10:g.69108285T>C | NCBI36 |
| NG_017033.1:g.13556A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317746.3:c.1005+565A>G (UGT2B17) MANE Select | ENSP00000320401.2:n.1005+565A>G | |
| ENST00000684088.1:c.255+565A>G (UGT2B17) | ENSP00000507374.1:n.255+565A>G | |
| ENST00000317746.2:c.1005+565A>G (UGT2B17) | ENSP00000320401.2:n.1005+565A>G | |
| ENST00000616841.4:c.1733-22446A>G (UGT2B15) | ENSP00000482004.1:n.1733-22446A>G | |
| NM_001077.3:c.1005+565A>G (UGT2B17) | NP_001068.1:n.1005+565A>G | |
| XM_024454205.1:c.1005+565A>G (UGT2B17) | XP_024309973.1:n.1005+565A>G | |
| NM_001077.4:c.1005+565A>G (UGT2B17) MANE Select | NP_001068.1:n.1005+565A>G |