Linked Data
ClinVar Variation Id:
336047
dbSNP Id:
rs770103215
ExAC:
2:44052129 A / T
gnomAD v2:
2-44052129-A-T
gnomAD v3:
2-43824990-A-T
gnomAD v4:
2-43824990-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824990A>T , CM000664.2:g.43824990A>T | GRCh38 |
| NC_000002.11:g.44052129A>T , CM000664.1:g.44052129A>T | GRCh37 |
| NC_000002.10:g.43905633A>T | NCBI36 |
| NG_008883.1:g.18830T>A | |
| NG_053008.1:g.55952A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.803T>A (ABCG5) MANE Select | ENSP00000384513.2:p.Phe268Tyr | |
| ENST00000644754.1:n.1289-558T>A (ABCG5) | ||
| ENST00000260645.5:c.803T>A (ABCG5) | ENSP00000260645.1:p.Phe268Tyr | |
| ENST00000405322.5:c.392-558T>A (ABCG5) | ENSP00000384513.1:n.392-558T>A | |
| ENST00000409962.1:c.392-872T>A (ABCG5) | ENSP00000386501.1:n.392-872T>A | |
| ENST00000486512.5:c.*388-872T>A (ABCG5) | ENSP00000430935.1:n.*388-872T>A | |
| NM_022436.2:c.803T>A (ABCG5) | NP_071881.1:p.Phe268Tyr | |
| XM_005264364.3:c.*16-2396A>T (DYNC2LI1) | XP_005264421.1:n.*16-2396A>T | |
| XM_005264365.3:c.*16-2396A>T (DYNC2LI1) | XP_005264422.1:n.*16-2396A>T | |
| XM_005264480.2:c.803T>A (ABCG5) | XP_005264537.1:p.Phe268Tyr | |
| XM_006712073.2:c.803T>A (ABCG5) | XP_006712136.1:p.Phe268Tyr | |
| XM_006712074.2:c.803T>A (ABCG5) | XP_006712137.1:p.Phe268Tyr | |
| XM_011533024.1:c.803T>A (ABCG5) | XP_011531326.1:p.Phe268Tyr | |
| XM_011533025.1:c.560T>A (ABCG5) | XP_011531327.1:p.Phe187Tyr | |
| XM_011533026.1:c.635-558T>A (ABCG5) | XP_011531328.1:n.635-558T>A | |
| XM_011533027.1:c.290T>A (ABCG5) | XP_011531329.1:p.Phe97Tyr | |
| XM_011533028.1:c.-35T>A (ABCG5) | XP_011531330.1:n.-35T>A | |
| NM_001348912.1:c.*16-2396A>T (DYNC2LI1) | NP_001335841.1:n.*16-2396A>T | |
| NM_001348913.1:c.*16-2396A>T (DYNC2LI1) | NP_001335842.1:n.*16-2396A>T | |
| XM_005264480.4:c.803T>A (ABCG5) | XP_005264537.1:p.Phe268Tyr | |
| XM_006712073.3:c.803T>A (ABCG5) | XP_006712136.1:p.Phe268Tyr | |
| XM_006712074.3:c.803T>A (ABCG5) | XP_006712137.1:p.Phe268Tyr | |
| XM_011533024.2:c.803T>A (ABCG5) | XP_011531326.1:p.Phe268Tyr | |
| XM_011533025.3:c.560T>A (ABCG5) | XP_011531327.1:p.Phe187Tyr | |
| XM_011533026.2:c.635-558T>A (ABCG5) | XP_011531328.1:n.635-558T>A | |
| XM_011533027.3:c.290T>A (ABCG5) | XP_011531329.1:p.Phe97Tyr | |
| XM_011533028.2:c.-35T>A (ABCG5) | XP_011531330.1:n.-35T>A | |
| NM_022436.3:c.803T>A (ABCG5) MANE Select | NP_071881.1:p.Phe268Tyr | |
| NM_001348912.2:c.*16-2396A>T (DYNC2LI1) | NP_001335841.1:n.*16-2396A>T | |
| NM_001348913.2:c.*16-2396A>T (DYNC2LI1) | NP_001335842.1:n.*16-2396A>T |