Linked Data
ClinVar Variation Id:
288092
dbSNP Id:
rs140341571
ExAC:
2:44064963 C / T
gnomAD v2:
2-44064963-C-T
gnomAD v3:
2-43837824-C-T
gnomAD v4:
2-43837824-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43837824C>T , CM000664.2:g.43837824C>T | GRCh38 |
| NC_000002.11:g.44064963C>T , CM000664.1:g.44064963C>T | GRCh37 |
| NC_000002.10:g.43918467C>T | NCBI36 |
| NG_008883.1:g.5996G>A | |
| NG_008884.1:g.3861C>T | |
| NG_008884.2:g.10883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.265+10G>A (ABCG5) MANE Select | ENSP00000384513.2:n.265+10G>A | |
| ENST00000643284.1:n.520+5163C>T (ABCG8) | ||
| ENST00000644611.1:c.75+5163C>T (ABCG8) | ENSP00000495423.1:n.75+5163C>T | |
| ENST00000644754.1:n.919+10G>A (ABCG5) | ||
| ENST00000260645.5:c.265+10G>A (ABCG5) | ENSP00000260645.1:n.265+10G>A | |
| ENST00000405322.5:c.22+10G>A (ABCG5) | ENSP00000384513.1:n.22+10G>A | |
| ENST00000409962.1:c.22+10G>A (ABCG5) | ENSP00000386501.1:n.22+10G>A | |
| ENST00000486512.5:c.22+10G>A (ABCG5) | ENSP00000430935.1:n.22+10G>A | |
| NM_022436.2:c.265+10G>A (ABCG5) | NP_071881.1:n.265+10G>A | |
| XM_005264480.2:c.265+10G>A (ABCG5) | XP_005264537.1:n.265+10G>A | |
| XM_006712073.2:c.265+10G>A (ABCG5) | XP_006712136.1:n.265+10G>A | |
| XM_006712074.2:c.265+10G>A (ABCG5) | XP_006712137.1:n.265+10G>A | |
| XM_011533024.1:c.265+10G>A (ABCG5) | XP_011531326.1:n.265+10G>A | |
| XM_011533025.1:c.22+10G>A (ABCG5) | XP_011531327.1:n.22+10G>A | |
| XM_011533026.1:c.265+10G>A (ABCG5) | XP_011531328.1:n.265+10G>A | |
| XM_011533027.1:c.-13+10G>A (ABCG5) | XP_011531329.1:n.-13+10G>A | |
| XM_011533029.1:c.75+5163C>T (ABCG8) | XP_011531331.1:n.75+5163C>T | |
| XM_011533030.1:c.75+5163C>T (ABCG8) | XP_011531332.1:n.75+5163C>T | |
| XM_011533031.1:c.-153-6683C>T (ABCG8) | XP_011531333.1:n.-153-6683C>T | |
| XR_939707.1:n.565+5163C>T (ABCG8) | ||
| XM_005264480.4:c.265+10G>A (ABCG5) | XP_005264537.1:n.265+10G>A | |
| XM_006712073.3:c.265+10G>A (ABCG5) | XP_006712136.1:n.265+10G>A | |
| XM_006712074.3:c.265+10G>A (ABCG5) | XP_006712137.1:n.265+10G>A | |
| XM_011533024.2:c.265+10G>A (ABCG5) | XP_011531326.1:n.265+10G>A | |
| XM_011533025.3:c.22+10G>A (ABCG5) | XP_011531327.1:n.22+10G>A | |
| XM_011533026.2:c.265+10G>A (ABCG5) | XP_011531328.1:n.265+10G>A | |
| XM_011533027.3:c.-13+10G>A (ABCG5) | XP_011531329.1:n.-13+10G>A | |
| XM_011533029.2:c.75+5163C>T (ABCG8) | XP_011531331.1:n.75+5163C>T | |
| XM_011533030.2:c.75+5163C>T (ABCG8) | XP_011531332.1:n.75+5163C>T | |
| XR_001738891.1:n.579+5163C>T (ABCG8) | ||
| XR_939707.2:n.579+5163C>T (ABCG8) | ||
| NM_022436.3:c.265+10G>A (ABCG5) MANE Select | NP_071881.1:n.265+10G>A |