Linked Data
ClinVar Variation Id:
286860
dbSNP Id:
rs373182673
ExAC:
2:44052098 C / T
gnomAD v2:
2-44052098-C-T
gnomAD v3:
2-43824959-C-T
gnomAD v4:
2-43824959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824959C>T , CM000664.2:g.43824959C>T | GRCh38 |
| NC_000002.11:g.44052098C>T , CM000664.1:g.44052098C>T | GRCh37 |
| NC_000002.10:g.43905602C>T | NCBI36 |
| NG_008883.1:g.18861G>A | |
| NG_053008.1:g.55921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.834G>A (ABCG5) MANE Select | ENSP00000384513.2:p.Ala278= | |
| ENST00000644754.1:n.1289-527G>A (ABCG5) | ||
| ENST00000260645.5:c.834G>A (ABCG5) | ENSP00000260645.1:p.Ala278= | |
| ENST00000405322.5:c.392-527G>A (ABCG5) | ENSP00000384513.1:n.392-527G>A | |
| ENST00000409962.1:c.392-841G>A (ABCG5) | ENSP00000386501.1:n.392-841G>A | |
| ENST00000486512.5:c.*388-841G>A (ABCG5) | ENSP00000430935.1:n.*388-841G>A | |
| NM_022436.2:c.834G>A (ABCG5) | NP_071881.1:p.Ala278= | |
| XM_005264364.3:c.*16-2427C>T (DYNC2LI1) | XP_005264421.1:n.*16-2427C>T | |
| XM_005264365.3:c.*16-2427C>T (DYNC2LI1) | XP_005264422.1:n.*16-2427C>T | |
| XM_005264480.2:c.834G>A (ABCG5) | XP_005264537.1:p.Ala278= | |
| XM_006712073.2:c.834G>A (ABCG5) | XP_006712136.1:p.Ala278= | |
| XM_006712074.2:c.834G>A (ABCG5) | XP_006712137.1:p.Ala278= | |
| XM_011533024.1:c.834G>A (ABCG5) | XP_011531326.1:p.Ala278= | |
| XM_011533025.1:c.591G>A (ABCG5) | XP_011531327.1:p.Ala197= | |
| XM_011533026.1:c.635-527G>A (ABCG5) | XP_011531328.1:n.635-527G>A | |
| XM_011533027.1:c.321G>A (ABCG5) | XP_011531329.1:p.Ala107= | |
| XM_011533028.1:c.-4G>A (ABCG5) | XP_011531330.1:n.-4G>A | |
| NM_001348912.1:c.*16-2427C>T (DYNC2LI1) | NP_001335841.1:n.*16-2427C>T | |
| NM_001348913.1:c.*16-2427C>T (DYNC2LI1) | NP_001335842.1:n.*16-2427C>T | |
| XM_005264480.4:c.834G>A (ABCG5) | XP_005264537.1:p.Ala278= | |
| XM_006712073.3:c.834G>A (ABCG5) | XP_006712136.1:p.Ala278= | |
| XM_006712074.3:c.834G>A (ABCG5) | XP_006712137.1:p.Ala278= | |
| XM_011533024.2:c.834G>A (ABCG5) | XP_011531326.1:p.Ala278= | |
| XM_011533025.3:c.591G>A (ABCG5) | XP_011531327.1:p.Ala197= | |
| XM_011533026.2:c.635-527G>A (ABCG5) | XP_011531328.1:n.635-527G>A | |
| XM_011533027.3:c.321G>A (ABCG5) | XP_011531329.1:p.Ala107= | |
| XM_011533028.2:c.-4G>A (ABCG5) | XP_011531330.1:n.-4G>A | |
| NM_022436.3:c.834G>A (ABCG5) MANE Select | NP_071881.1:p.Ala278= | |
| NM_001348912.2:c.*16-2427C>T (DYNC2LI1) | NP_001335841.1:n.*16-2427C>T | |
| NM_001348913.2:c.*16-2427C>T (DYNC2LI1) | NP_001335842.1:n.*16-2427C>T |