Linked Data
dbSNP Id:
rs1261292882
gnomAD v2:
4-69425586-T-C
gnomAD v3:
4-68559868-T-C
gnomAD v4:
4-68559868-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68559868T>C , CM000666.2:g.68559868T>C | GRCh38 |
| NC_000004.11:g.69425586T>C , CM000666.1:g.69425586T>C | GRCh37 |
| NC_000004.10:g.69108181T>C | NCBI36 |
| NG_017033.1:g.13660A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317746.3:c.1005+669A>G (UGT2B17) MANE Select | ENSP00000320401.2:n.1005+669A>G | |
| ENST00000684088.1:c.255+669A>G (UGT2B17) | ENSP00000507374.1:n.255+669A>G | |
| ENST00000317746.2:c.1005+669A>G (UGT2B17) | ENSP00000320401.2:n.1005+669A>G | |
| ENST00000616841.4:c.1733-22342A>G (UGT2B15) | ENSP00000482004.1:n.1733-22342A>G | |
| NM_001077.3:c.1005+669A>G (UGT2B17) | NP_001068.1:n.1005+669A>G | |
| XM_024454205.1:c.1005+669A>G (UGT2B17) | XP_024309973.1:n.1005+669A>G | |
| NM_001077.4:c.1005+669A>G (UGT2B17) MANE Select | NP_001068.1:n.1005+669A>G |