Linked Data
ClinVar Variation Id:
440380
ClinVar RCV Id:
RCV001811014
dbSNP Id:
rs1105879
ExAC:
2:234602202 A / C
gnomAD v2:
2-234602202-A-C
gnomAD v3:
2-233693556-A-C
gnomAD v4:
2-233693556-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233693556A>C , CM000664.2:g.233693556A>C | GRCh38 |
| NC_000002.11:g.234602202A>C , CM000664.1:g.234602202A>C | GRCh37 |
| NC_000002.10:g.234266941A>C | NCBI36 |
| NG_002601.2:g.108813A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344644.10:c.855+56179A>C (UGT1A10) MANE Select | ENSP00000343838.5:n.855+56179A>C | |
| ENST00000373426.4:c.855+10764A>C (UGT1A7) MANE Select | ENSP00000362525.3:n.855+10764A>C | |
| ENST00000373450.5:c.856-73478A>C (UGT1A8) MANE Select | ENSP00000362549.4:n.856-73478A>C | |
| ENST00000305139.11:c.552A>C (UGT1A6) MANE Select | ENSP00000303174.6:p.Arg184Ser | |
| ENST00000354728.5:c.855+20767A>C (UGT1A9) MANE Select | ENSP00000346768.4:n.855+20767A>C | |
| ENST00000305139.10:c.552A>C (UGT1A6) | ENSP00000303174.6:p.Arg184Ser | |
| ENST00000344644.9:c.855+56179A>C (UGT1A10) | ENSP00000343838.5:n.855+56179A>C | |
| ENST00000354728.4:c.855+20767A>C (UGT1A9) | ENSP00000346768.4:n.855+20767A>C | |
| ENST00000373424.5:c.-7-243A>C (UGT1A6) | ENSP00000362523.1:n.-7-243A>C | |
| ENST00000373426.3:c.855+10764A>C (UGT1A7) | ENSP00000362525.3:n.855+10764A>C | |
| ENST00000373445.1:c.855+56179A>C (UGT1A10) | ENSP00000362544.1:n.855+56179A>C | |
| ENST00000373450.4:c.856-73478A>C (UGT1A8) | ENSP00000362549.4:n.856-73478A>C | |
| ENST00000441351.1:c.552A>C (UGT1A6) | ENSP00000389637.1:p.Arg184Ser | |
| ENST00000446481.6:c.-7-243A>C (UGT1A6) | ENSP00000401541.1:n.-7-243A>C | |
| ENST00000480628.1:n.120-243A>C (UGT1A6) | ||
| NM_001072.3:c.552A>C (UGT1A6) | NP_001063.2:p.Arg184Ser | |
| NM_019075.2:c.855+56179A>C (UGT1A10) | NP_061948.1:n.855+56179A>C | |
| NM_019076.4:c.856-73478A>C (UGT1A8) | NP_061949.3:n.856-73478A>C | |
| NM_019077.2:c.855+10764A>C (UGT1A7) | NP_061950.2:n.855+10764A>C | |
| NM_021027.2:c.855+20767A>C (UGT1A9) | NP_066307.1:n.855+20767A>C | |
| NM_205862.1:c.-7-243A>C (UGT1A6) | NP_995584.1:n.-7-243A>C | |
| NM_001072.4:c.552A>C (UGT1A6) MANE Select | NP_001063.2:p.Arg184Ser | |
| NM_021027.3:c.855+20767A>C (UGT1A9) MANE Select | NP_066307.1:n.855+20767A>C | |
| NM_205862.2:c.-7-243A>C (UGT1A6) | NP_995584.1:n.-7-243A>C | |
| NM_019075.4:c.855+56179A>C (UGT1A10) MANE Select | NP_061948.1:n.855+56179A>C | |
| NM_019076.5:c.856-73478A>C (UGT1A8) MANE Select | NP_061949.3:n.856-73478A>C | |
| NM_019077.3:c.855+10764A>C (UGT1A7) MANE Select | NP_061950.2:n.855+10764A>C | |
| NM_205862.3:c.-7-243A>C (UGT1A6) | NP_995584.1:n.-7-243A>C |