Linked Data
ClinVar Variation Id:
194263
dbSNP Id:
rs114780578
ExAC:
2:44040455 A / C
gnomAD v2:
2-44040455-A-C
gnomAD v3:
2-43813316-A-C
gnomAD v4:
2-43813316-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43813316A>C , CM000664.2:g.43813316A>C | GRCh38 |
| NC_000002.11:g.44040455A>C , CM000664.1:g.44040455A>C | GRCh37 |
| NC_000002.10:g.43893959A>C | NCBI36 |
| NG_008883.1:g.30504T>G | |
| NG_053008.1:g.44278A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1763-7T>G (ABCG5) MANE Select | ENSP00000384513.2:n.1763-7T>G | |
| ENST00000644754.1:n.2147-7T>G (ABCG5) | ||
| ENST00000260645.5:c.1763-7T>G (ABCG5) | ENSP00000260645.1:n.1763-7T>G | |
| ENST00000405322.5:c.1250-7T>G (ABCG5) | ENSP00000384513.1:n.1250-7T>G | |
| ENST00000409962.1:c.*637-7T>G (ABCG5) | ENSP00000386501.1:n.*637-7T>G | |
| ENST00000486512.5:c.*1032-7T>G (ABCG5) | ENSP00000430935.1:n.*1032-7T>G | |
| NM_022436.2:c.1763-7T>G (ABCG5) | NP_071881.1:n.1763-7T>G | |
| XM_005264364.3:c.*15+2792A>C (DYNC2LI1) | XP_005264421.1:n.*15+2792A>C | |
| XM_005264365.3:c.*15+2792A>C (DYNC2LI1) | XP_005264422.1:n.*15+2792A>C | |
| XM_005264480.2:c.1650-7T>G (ABCG5) | XP_005264537.1:n.1650-7T>G | |
| XM_006712073.2:c.1762+1161T>G (ABCG5) | XP_006712136.1:n.1762+1161T>G | |
| XM_011533024.1:c.1628-7T>G (ABCG5) | XP_011531326.1:n.1628-7T>G | |
| XM_011533025.1:c.1520-7T>G (ABCG5) | XP_011531327.1:n.1520-7T>G | |
| XM_011533026.1:c.1493-7T>G (ABCG5) | XP_011531328.1:n.1493-7T>G | |
| XM_011533027.1:c.1250-7T>G (ABCG5) | XP_011531329.1:n.1250-7T>G | |
| XM_011533028.1:c.926-7T>G (ABCG5) | XP_011531330.1:n.926-7T>G | |
| NM_001348912.1:c.*15+2792A>C (DYNC2LI1) | NP_001335841.1:n.*15+2792A>C | |
| NM_001348913.1:c.*15+2792A>C (DYNC2LI1) | NP_001335842.1:n.*15+2792A>C | |
| XM_005264480.4:c.1650-7T>G (ABCG5) | XP_005264537.1:n.1650-7T>G | |
| XM_006712073.3:c.1762+1161T>G (ABCG5) | XP_006712136.1:n.1762+1161T>G | |
| XM_011533024.2:c.1628-7T>G (ABCG5) | XP_011531326.1:n.1628-7T>G | |
| XM_011533025.3:c.1520-7T>G (ABCG5) | XP_011531327.1:n.1520-7T>G | |
| XM_011533026.2:c.1493-7T>G (ABCG5) | XP_011531328.1:n.1493-7T>G | |
| XM_011533027.3:c.1250-7T>G (ABCG5) | XP_011531329.1:n.1250-7T>G | |
| XM_011533028.2:c.926-7T>G (ABCG5) | XP_011531330.1:n.926-7T>G | |
| NM_022436.3:c.1763-7T>G (ABCG5) MANE Select | NP_071881.1:n.1763-7T>G | |
| NM_001348912.2:c.*15+2792A>C (DYNC2LI1) | NP_001335841.1:n.*15+2792A>C | |
| NM_001348913.2:c.*15+2792A>C (DYNC2LI1) | NP_001335842.1:n.*15+2792A>C |