Linked Data
ClinVar Variation Id:
828262
ClinVar RCV Id:
RCV001028172
dbSNP Id:
rs7668258
gnomAD v2:
4-69962078-T-C
gnomAD v3:
4-69096360-T-C
gnomAD v4:
4-69096360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69096360T>C , CM000666.2:g.69096360T>C | GRCh38 |
| NC_000004.11:g.69962078T>C , CM000666.1:g.69962078T>C | GRCh37 |
| NC_000004.10:g.69996667T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502942.5:c.-26-2180T>C (UGT2B7) | ENSP00000426206.1:n.-26-2180T>C | |
| ENST00000509763.1:n.260-2180T>C (UGT2B7) | ||
| ENST00000615638.4:c.*106-91607A>G (UGT2B11) | ENSP00000477842.1:n.*106-91607A>G | |
| ENST00000620779.4:c.*380-91607A>G (UGT2B11) | ENSP00000478182.1:n.*380-91607A>G | |
| XM_005265702.2:c.-26-2180T>C (UGT2B7) | XP_005265759.1:n.-26-2180T>C | |
| XM_011532231.1:c.-26-2180T>C (UGT2B7) | XP_011530533.1:n.-26-2180T>C | |
| NM_001349568.1:c.-26-2180T>C (UGT2B7) | NP_001336497.1:n.-26-2180T>C | |
| NM_001349568.2:c.-26-2180T>C (UGT2B7) | NP_001336497.1:n.-26-2180T>C |