Linked Data
ClinVar Variation Id:
283812
dbSNP Id:
rs72796720
ExAC:
2:44053599 G / A
gnomAD v2:
2-44053599-G-A
gnomAD v3:
2-43826460-G-A
gnomAD v4:
2-43826460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43826460G>A , CM000664.2:g.43826460G>A | GRCh38 |
| NC_000002.11:g.44053599G>A , CM000664.1:g.44053599G>A | GRCh37 |
| NC_000002.10:g.43907103G>A | NCBI36 |
| NG_008883.1:g.17360C>T | |
| NG_053008.1:g.57422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.696C>T (ABCG5) MANE Select | ENSP00000384513.2:p.Val232= | |
| ENST00000644754.1:n.1288+1523C>T (ABCG5) | ||
| ENST00000260645.5:c.696C>T (ABCG5) | ENSP00000260645.1:p.Val232= | |
| ENST00000405322.5:c.391+1523C>T (ABCG5) | ENSP00000384513.1:n.391+1523C>T | |
| ENST00000409962.1:c.391+1523C>T (ABCG5) | ENSP00000386501.1:n.391+1523C>T | |
| ENST00000486512.5:c.*387+1523C>T (ABCG5) | ENSP00000430935.1:n.*387+1523C>T | |
| NM_022436.2:c.696C>T (ABCG5) | NP_071881.1:p.Val232= | |
| XM_005264364.3:c.*16-926G>A (DYNC2LI1) | XP_005264421.1:n.*16-926G>A | |
| XM_005264365.3:c.*16-926G>A (DYNC2LI1) | XP_005264422.1:n.*16-926G>A | |
| XM_005264480.2:c.696C>T (ABCG5) | XP_005264537.1:p.Val232= | |
| XM_006712073.2:c.696C>T (ABCG5) | XP_006712136.1:p.Val232= | |
| XM_006712074.2:c.696C>T (ABCG5) | XP_006712137.1:p.Val232= | |
| XM_011533024.1:c.696C>T (ABCG5) | XP_011531326.1:p.Val232= | |
| XM_011533025.1:c.453C>T (ABCG5) | XP_011531327.1:p.Val151= | |
| XM_011533026.1:c.634+1523C>T (ABCG5) | XP_011531328.1:n.634+1523C>T | |
| XM_011533027.1:c.183C>T (ABCG5) | XP_011531329.1:p.Val61= | |
| XM_011533028.1:c.-63-1442C>T (ABCG5) | XP_011531330.1:n.-63-1442C>T | |
| NM_001348912.1:c.*16-926G>A (DYNC2LI1) | NP_001335841.1:n.*16-926G>A | |
| NM_001348913.1:c.*16-926G>A (DYNC2LI1) | NP_001335842.1:n.*16-926G>A | |
| XM_005264480.4:c.696C>T (ABCG5) | XP_005264537.1:p.Val232= | |
| XM_006712073.3:c.696C>T (ABCG5) | XP_006712136.1:p.Val232= | |
| XM_006712074.3:c.696C>T (ABCG5) | XP_006712137.1:p.Val232= | |
| XM_011533024.2:c.696C>T (ABCG5) | XP_011531326.1:p.Val232= | |
| XM_011533025.3:c.453C>T (ABCG5) | XP_011531327.1:p.Val151= | |
| XM_011533026.2:c.634+1523C>T (ABCG5) | XP_011531328.1:n.634+1523C>T | |
| XM_011533027.3:c.183C>T (ABCG5) | XP_011531329.1:p.Val61= | |
| XM_011533028.2:c.-63-1442C>T (ABCG5) | XP_011531330.1:n.-63-1442C>T | |
| NM_022436.3:c.696C>T (ABCG5) MANE Select | NP_071881.1:p.Val232= | |
| NM_001348912.2:c.*16-926G>A (DYNC2LI1) | NP_001335841.1:n.*16-926G>A | |
| NM_001348913.2:c.*16-926G>A (DYNC2LI1) | NP_001335842.1:n.*16-926G>A |