Linked Data
ClinVar Variation Id:
336033
dbSNP Id:
rs114868704
gnomAD v2:
2-44039970-C-G
gnomAD v3:
2-43812831-C-G
gnomAD v4:
2-43812831-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43812831C>G , CM000664.2:g.43812831C>G | GRCh38 |
| NC_000002.11:g.44039970C>G , CM000664.1:g.44039970C>G | GRCh37 |
| NC_000002.10:g.43893474C>G | NCBI36 |
| NG_008883.1:g.30989G>C | |
| NG_053008.1:g.43793C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.*285G>C (ABCG5) MANE Select | ENSP00000384513.2:n.*285G>C | |
| ENST00000644754.1:n.2625G>C (ABCG5) | ||
| ENST00000260645.5:c.*285G>C (ABCG5) | ENSP00000260645.1:n.*285G>C | |
| ENST00000405322.5:c.*285G>C (ABCG5) | ENSP00000384513.1:n.*285G>C | |
| ENST00000486512.5:c.*1510G>C (ABCG5) | ENSP00000430935.1:n.*1510G>C | |
| NM_022436.2:c.*285G>C (ABCG5) | NP_071881.1:n.*285G>C | |
| XM_005264364.3:c.*15+2307C>G (DYNC2LI1) | XP_005264421.1:n.*15+2307C>G | |
| XM_005264365.3:c.*15+2307C>G (DYNC2LI1) | XP_005264422.1:n.*15+2307C>G | |
| XM_006712073.2:c.1762+1646G>C (ABCG5) | XP_006712136.1:n.1762+1646G>C | |
| NM_001348912.1:c.*15+2307C>G (DYNC2LI1) | NP_001335841.1:n.*15+2307C>G | |
| NM_001348913.1:c.*15+2307C>G (DYNC2LI1) | NP_001335842.1:n.*15+2307C>G | |
| XM_006712073.3:c.1762+1646G>C (ABCG5) | XP_006712136.1:n.1762+1646G>C | |
| XM_011533024.2:c.*285G>C (ABCG5) | XP_011531326.1:n.*285G>C | |
| XM_011533025.3:c.*285G>C (ABCG5) | XP_011531327.1:n.*285G>C | |
| XM_011533026.2:c.*285G>C (ABCG5) | XP_011531328.1:n.*285G>C | |
| XM_011533027.3:c.*285G>C (ABCG5) | XP_011531329.1:n.*285G>C | |
| XM_011533028.2:c.*285G>C (ABCG5) | XP_011531330.1:n.*285G>C | |
| NM_022436.3:c.*285G>C (ABCG5) MANE Select | NP_071881.1:n.*285G>C | |
| NM_001348912.2:c.*15+2307C>G (DYNC2LI1) | NP_001335841.1:n.*15+2307C>G | |
| NM_001348913.2:c.*15+2307C>G (DYNC2LI1) | NP_001335842.1:n.*15+2307C>G |