Linked Data
ClinVar Variation Id:
4981
ClinVar RCV Id:
RCV000005269
dbSNP Id:
rs119480070
ExAC:
2:44065009 C / A
gnomAD v2:
2-44065009-C-A
gnomAD v3:
2-43837870-C-A
gnomAD v4:
2-43837870-C-A
PubMed:
PMID:16029460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43837870C>A , CM000664.2:g.43837870C>A | GRCh38 |
| NC_000002.11:g.44065009C>A , CM000664.1:g.44065009C>A | GRCh37 |
| NC_000002.10:g.43918513C>A | NCBI36 |
| NG_008883.1:g.5950G>T | |
| NG_008884.1:g.3907C>A | |
| NG_008884.2:g.10929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.229G>T (ABCG5) MANE Select | ENSP00000384513.2:p.Glu77Ter | |
| ENST00000643284.1:n.520+5209C>A (ABCG8) | ||
| ENST00000644611.1:c.75+5209C>A (ABCG8) | ENSP00000495423.1:n.75+5209C>A | |
| ENST00000644754.1:n.883G>T (ABCG5) | ||
| ENST00000260645.5:c.229G>T (ABCG5) | ENSP00000260645.1:p.Glu77Ter | |
| ENST00000405322.5:c.-15G>T (ABCG5) | ENSP00000384513.1:n.-15G>T | |
| ENST00000409962.1:c.-15G>T (ABCG5) | ENSP00000386501.1:n.-15G>T | |
| ENST00000486512.5:c.-15G>T (ABCG5) | ENSP00000430935.1:n.-15G>T | |
| NM_022436.2:c.229G>T (ABCG5) | NP_071881.1:p.Glu77Ter | |
| XM_005264480.2:c.229G>T (ABCG5) | XP_005264537.1:p.Glu77Ter | |
| XM_006712073.2:c.229G>T (ABCG5) | XP_006712136.1:p.Glu77Ter | |
| XM_006712074.2:c.229G>T (ABCG5) | XP_006712137.1:p.Glu77Ter | |
| XM_011533024.1:c.229G>T (ABCG5) | XP_011531326.1:p.Glu77Ter | |
| XM_011533025.1:c.-15G>T (ABCG5) | XP_011531327.1:n.-15G>T | |
| XM_011533026.1:c.229G>T (ABCG5) | XP_011531328.1:p.Glu77Ter | |
| XM_011533027.1:c.-49G>T (ABCG5) | XP_011531329.1:n.-49G>T | |
| XM_011533029.1:c.75+5209C>A (ABCG8) | XP_011531331.1:n.75+5209C>A | |
| XM_011533030.1:c.75+5209C>A (ABCG8) | XP_011531332.1:n.75+5209C>A | |
| XM_011533031.1:c.-153-6637C>A (ABCG8) | XP_011531333.1:n.-153-6637C>A | |
| XR_939707.1:n.565+5209C>A (ABCG8) | ||
| XM_005264480.4:c.229G>T (ABCG5) | XP_005264537.1:p.Glu77Ter | |
| XM_006712073.3:c.229G>T (ABCG5) | XP_006712136.1:p.Glu77Ter | |
| XM_006712074.3:c.229G>T (ABCG5) | XP_006712137.1:p.Glu77Ter | |
| XM_011533024.2:c.229G>T (ABCG5) | XP_011531326.1:p.Glu77Ter | |
| XM_011533025.3:c.-15G>T (ABCG5) | XP_011531327.1:n.-15G>T | |
| XM_011533026.2:c.229G>T (ABCG5) | XP_011531328.1:p.Glu77Ter | |
| XM_011533027.3:c.-49G>T (ABCG5) | XP_011531329.1:n.-49G>T | |
| XM_011533029.2:c.75+5209C>A (ABCG8) | XP_011531331.1:n.75+5209C>A | |
| XM_011533030.2:c.75+5209C>A (ABCG8) | XP_011531332.1:n.75+5209C>A | |
| XR_001738891.1:n.579+5209C>A (ABCG8) | ||
| XR_939707.2:n.579+5209C>A (ABCG8) | ||
| NM_022436.3:c.229G>T (ABCG5) MANE Select | NP_071881.1:p.Glu77Ter |