Linked Data
ClinVar Variation Id:
283529
ClinVar RCV Id:
RCV000384239
RCV000852225
RCV001094624
RCV001699095
RCV002418109
RCV003611507
RCV003977758
dbSNP Id:
rs56204478
ExAC:
2:44065739 C / G
gnomAD v2:
2-44065739-C-G
gnomAD v3:
2-43838600-C-G
gnomAD v4:
2-43838600-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43838600C>G , CM000664.2:g.43838600C>G | GRCh38 |
| NC_000002.11:g.44065739C>G , CM000664.1:g.44065739C>G | GRCh37 |
| NC_000002.10:g.43919243C>G | NCBI36 |
| NG_008883.1:g.5220G>C | |
| NG_008884.1:g.4637C>G | |
| NG_008884.2:g.11659C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.80G>C (ABCG5) MANE Select | ENSP00000384513.2:p.Gly27Ala | |
| ENST00000643284.1:n.521-5907C>G (ABCG8) | ||
| ENST00000644611.1:c.76-5907C>G (ABCG8) | ENSP00000495423.1:n.76-5907C>G | |
| ENST00000644754.1:n.153G>C (ABCG5) | ||
| ENST00000260645.5:c.80G>C (ABCG5) | ENSP00000260645.1:p.Gly27Ala | |
| ENST00000405322.5:c.-745G>C (ABCG5) | ENSP00000384513.1:n.-745G>C | |
| ENST00000409962.1:c.-745G>C (ABCG5) | ENSP00000386501.1:n.-745G>C | |
| ENST00000486512.5:c.-745G>C (ABCG5) | ENSP00000430935.1:n.-745G>C | |
| NM_022436.2:c.80G>C (ABCG5) | NP_071881.1:p.Gly27Ala | |
| XM_005264480.2:c.80G>C (ABCG5) | XP_005264537.1:p.Gly27Ala | |
| XM_006712073.2:c.80G>C (ABCG5) | XP_006712136.1:p.Gly27Ala | |
| XM_006712074.2:c.80G>C (ABCG5) | XP_006712137.1:p.Gly27Ala | |
| XM_011533024.1:c.80G>C (ABCG5) | XP_011531326.1:p.Gly27Ala | |
| XM_011533025.1:c.-664G>C (ABCG5) | XP_011531327.1:n.-664G>C | |
| XM_011533026.1:c.80G>C (ABCG5) | XP_011531328.1:p.Gly27Ala | |
| XM_011533027.1:c.-779G>C (ABCG5) | XP_011531329.1:n.-779G>C | |
| XM_011533029.1:c.76-5907C>G (ABCG8) | XP_011531331.1:n.76-5907C>G | |
| XM_011533030.1:c.76-5907C>G (ABCG8) | XP_011531332.1:n.76-5907C>G | |
| XM_011533031.1:c.-153-5907C>G (ABCG8) | XP_011531333.1:n.-153-5907C>G | |
| XR_939707.1:n.566-5907C>G (ABCG8) | ||
| XM_005264480.4:c.80G>C (ABCG5) | XP_005264537.1:p.Gly27Ala | |
| XM_006712073.3:c.80G>C (ABCG5) | XP_006712136.1:p.Gly27Ala | |
| XM_006712074.3:c.80G>C (ABCG5) | XP_006712137.1:p.Gly27Ala | |
| XM_011533024.2:c.80G>C (ABCG5) | XP_011531326.1:p.Gly27Ala | |
| XM_011533025.3:c.-664G>C (ABCG5) | XP_011531327.1:n.-664G>C | |
| XM_011533026.2:c.80G>C (ABCG5) | XP_011531328.1:p.Gly27Ala | |
| XM_011533027.3:c.-779G>C (ABCG5) | XP_011531329.1:n.-779G>C | |
| XM_011533029.2:c.76-5907C>G (ABCG8) | XP_011531331.1:n.76-5907C>G | |
| XM_011533030.2:c.76-5907C>G (ABCG8) | XP_011531332.1:n.76-5907C>G | |
| XR_001738891.1:n.580-5907C>G (ABCG8) | ||
| XR_939707.2:n.580-5907C>G (ABCG8) | ||
| NM_022436.3:c.80G>C (ABCG5) MANE Select | NP_071881.1:p.Gly27Ala |