Linked Data
dbSNP Id:
rs7436338
gnomAD v2:
4-69433279-A-G
gnomAD v3:
4-68567561-A-G
gnomAD v4:
4-68567561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68567561A>G , CM000666.2:g.68567561A>G | GRCh38 |
| NC_000004.11:g.69433279A>G , CM000666.1:g.69433279A>G | GRCh37 |
| NC_000004.10:g.69115874A>G | NCBI36 |
| NG_017033.1:g.5967T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317746.3:c.724+200T>C (UGT2B17) MANE Select | ENSP00000320401.2:n.724+200T>C | |
| ENST00000684088.1:c.-26-1841T>C (UGT2B17) | ENSP00000507374.1:n.-26-1841T>C | |
| ENST00000317746.2:c.724+200T>C (UGT2B17) | ENSP00000320401.2:n.724+200T>C | |
| ENST00000616841.4:c.1733-30035T>C (UGT2B15) | ENSP00000482004.1:n.1733-30035T>C | |
| NM_001077.3:c.724+200T>C (UGT2B17) | NP_001068.1:n.724+200T>C | |
| XM_024454205.1:c.724+200T>C (UGT2B17) | XP_024309973.1:n.724+200T>C | |
| NM_001077.4:c.724+200T>C (UGT2B17) MANE Select | NP_001068.1:n.724+200T>C |