Linked Data
ClinVar Variation Id:
289815
ClinVar RCV Id:
RCV000376941
RCV000766455
RCV001086479
RCV001141660
RCV002436125
RCV001836763
RCV003920159
dbSNP Id:
rs145164937
ExAC:
2:44059195 G / C
gnomAD v2:
2-44059195-G-C
gnomAD v3:
2-43832056-G-C
gnomAD v4:
2-43832056-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43832056G>C , CM000664.2:g.43832056G>C | GRCh38 |
| NC_000002.11:g.44059195G>C , CM000664.1:g.44059195G>C | GRCh37 |
| NC_000002.10:g.43912699G>C | NCBI36 |
| NG_008883.1:g.11764C>G | |
| NG_008884.2:g.5115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.293C>G (ABCG5) MANE Select | ENSP00000384513.2:p.Ala98Gly | |
| ENST00000644611.1:c.-531G>C (ABCG8) | ENSP00000495423.1:n.-531G>C | |
| ENST00000644754.1:n.947C>G (ABCG5) | ||
| ENST00000260645.5:c.293C>G (ABCG5) | ENSP00000260645.1:p.Ala98Gly | |
| ENST00000405322.5:c.50C>G (ABCG5) | ENSP00000384513.1:p.Ala17Gly | |
| ENST00000409962.1:c.50C>G (ABCG5) | ENSP00000386501.1:p.Ala17Gly | |
| ENST00000486512.5:c.50C>G (ABCG5) | ENSP00000430935.1:p.Ala17Gly | |
| NM_022436.2:c.293C>G (ABCG5) | NP_071881.1:p.Ala98Gly | |
| XM_005264480.2:c.293C>G (ABCG5) | XP_005264537.1:p.Ala98Gly | |
| XM_006712073.2:c.293C>G (ABCG5) | XP_006712136.1:p.Ala98Gly | |
| XM_006712074.2:c.293C>G (ABCG5) | XP_006712137.1:p.Ala98Gly | |
| XM_011533024.1:c.293C>G (ABCG5) | XP_011531326.1:p.Ala98Gly | |
| XM_011533025.1:c.50C>G (ABCG5) | XP_011531327.1:p.Ala17Gly | |
| XM_011533026.1:c.293C>G (ABCG5) | XP_011531328.1:p.Ala98Gly | |
| XM_011533027.1:c.-12-3941C>G (ABCG5) | XP_011531329.1:n.-12-3941C>G | |
| XM_011533031.1:c.-154+1260G>C (ABCG8) | XP_011531333.1:n.-154+1260G>C | |
| XM_005264480.4:c.293C>G (ABCG5) | XP_005264537.1:p.Ala98Gly | |
| XM_006712073.3:c.293C>G (ABCG5) | XP_006712136.1:p.Ala98Gly | |
| XM_006712074.3:c.293C>G (ABCG5) | XP_006712137.1:p.Ala98Gly | |
| XM_011533024.2:c.293C>G (ABCG5) | XP_011531326.1:p.Ala98Gly | |
| XM_011533025.3:c.50C>G (ABCG5) | XP_011531327.1:p.Ala17Gly | |
| XM_011533026.2:c.293C>G (ABCG5) | XP_011531328.1:p.Ala98Gly | |
| XM_011533027.3:c.-12-3941C>G (ABCG5) | XP_011531329.1:n.-12-3941C>G | |
| XM_011533029.2:c.-531G>C (ABCG8) | XP_011531331.1:n.-531G>C | |
| NM_022436.3:c.293C>G (ABCG5) MANE Select | NP_071881.1:p.Ala98Gly |