Linked Data
ClinVar Variation Id:
336037
dbSNP Id:
rs376969021
ExAC:
2:44047134 G / A
gnomAD v2:
2-44047134-G-A
gnomAD v3:
2-43819995-G-A
gnomAD v4:
2-43819995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43819995G>A , CM000664.2:g.43819995G>A | GRCh38 |
| NC_000002.11:g.44047134G>A , CM000664.1:g.44047134G>A | GRCh37 |
| NC_000002.10:g.43900638G>A | NCBI36 |
| NG_008883.1:g.23825C>T | |
| NG_053008.1:g.50957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1569C>T (ABCG5) MANE Select | ENSP00000384513.2:p.Ile523= | |
| ENST00000644754.1:n.1953C>T (ABCG5) | ||
| ENST00000260645.5:c.1569C>T (ABCG5) | ENSP00000260645.1:p.Ile523= | |
| ENST00000405322.5:c.1056C>T (ABCG5) | ENSP00000384513.1:p.Ile352= | |
| ENST00000409962.1:c.*443C>T (ABCG5) | ENSP00000386501.1:n.*443C>T | |
| ENST00000486512.5:c.*838C>T (ABCG5) | ENSP00000430935.1:n.*838C>T | |
| NM_022436.2:c.1569C>T (ABCG5) | NP_071881.1:p.Ile523= | |
| XM_005264364.3:c.*16-7391G>A (DYNC2LI1) | XP_005264421.1:n.*16-7391G>A | |
| XM_005264365.3:c.*16-7391G>A (DYNC2LI1) | XP_005264422.1:n.*16-7391G>A | |
| XM_005264480.2:c.1569C>T (ABCG5) | XP_005264537.1:p.Ile523= | |
| XM_006712073.2:c.1569C>T (ABCG5) | XP_006712136.1:p.Ile523= | |
| XM_011533024.1:c.1434C>T (ABCG5) | XP_011531326.1:p.Ile478= | |
| XM_011533025.1:c.1326C>T (ABCG5) | XP_011531327.1:p.Ile442= | |
| XM_011533026.1:c.1299C>T (ABCG5) | XP_011531328.1:p.Ile433= | |
| XM_011533027.1:c.1056C>T (ABCG5) | XP_011531329.1:p.Ile352= | |
| XM_011533028.1:c.732C>T (ABCG5) | XP_011531330.1:p.Ile244= | |
| NM_001348912.1:c.*16-7391G>A (DYNC2LI1) | NP_001335841.1:n.*16-7391G>A | |
| NM_001348913.1:c.*16-7391G>A (DYNC2LI1) | NP_001335842.1:n.*16-7391G>A | |
| XM_005264480.4:c.1569C>T (ABCG5) | XP_005264537.1:p.Ile523= | |
| XM_006712073.3:c.1569C>T (ABCG5) | XP_006712136.1:p.Ile523= | |
| XM_011533024.2:c.1434C>T (ABCG5) | XP_011531326.1:p.Ile478= | |
| XM_011533025.3:c.1326C>T (ABCG5) | XP_011531327.1:p.Ile442= | |
| XM_011533026.2:c.1299C>T (ABCG5) | XP_011531328.1:p.Ile433= | |
| XM_011533027.3:c.1056C>T (ABCG5) | XP_011531329.1:p.Ile352= | |
| XM_011533028.2:c.732C>T (ABCG5) | XP_011531330.1:p.Ile244= | |
| NM_022436.3:c.1569C>T (ABCG5) MANE Select | NP_071881.1:p.Ile523= | |
| NM_001348912.2:c.*16-7391G>A (DYNC2LI1) | NP_001335841.1:n.*16-7391G>A | |
| NM_001348913.2:c.*16-7391G>A (DYNC2LI1) | NP_001335842.1:n.*16-7391G>A |