Linked Data
ClinVar Variation Id:
336042
dbSNP Id:
rs149418765
ExAC:
2:44051213 G / A
gnomAD v2:
2-44051213-G-A
gnomAD v3:
2-43824074-G-A
gnomAD v4:
2-43824074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824074G>A , CM000664.2:g.43824074G>A | GRCh38 |
| NC_000002.11:g.44051213G>A , CM000664.1:g.44051213G>A | GRCh37 |
| NC_000002.10:g.43904717G>A | NCBI36 |
| NG_008883.1:g.19746C>T | |
| NG_053008.1:g.55036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1163C>T (ABCG5) MANE Select | ENSP00000384513.2:p.Thr388Met | |
| ENST00000644754.1:n.1547C>T (ABCG5) | ||
| ENST00000260645.5:c.1163C>T (ABCG5) | ENSP00000260645.1:p.Thr388Met | |
| ENST00000405322.5:c.650C>T (ABCG5) | ENSP00000384513.1:p.Thr217Met | |
| ENST00000409962.1:c.*37C>T (ABCG5) | ENSP00000386501.1:n.*37C>T | |
| ENST00000486512.5:c.*432C>T (ABCG5) | ENSP00000430935.1:n.*432C>T | |
| NM_022436.2:c.1163C>T (ABCG5) | NP_071881.1:p.Thr388Met | |
| XM_005264364.3:c.*16-3312G>A (DYNC2LI1) | XP_005264421.1:n.*16-3312G>A | |
| XM_005264365.3:c.*16-3312G>A (DYNC2LI1) | XP_005264422.1:n.*16-3312G>A | |
| XM_005264480.2:c.1163C>T (ABCG5) | XP_005264537.1:p.Thr388Met | |
| XM_006712073.2:c.1163C>T (ABCG5) | XP_006712136.1:p.Thr388Met | |
| XM_011533024.1:c.1163C>T (ABCG5) | XP_011531326.1:p.Thr388Met | |
| XM_011533025.1:c.920C>T (ABCG5) | XP_011531327.1:p.Thr307Met | |
| XM_011533026.1:c.893C>T (ABCG5) | XP_011531328.1:p.Thr298Met | |
| XM_011533027.1:c.650C>T (ABCG5) | XP_011531329.1:p.Thr217Met | |
| XM_011533028.1:c.326C>T (ABCG5) | XP_011531330.1:p.Thr109Met | |
| NM_001348912.1:c.*16-3312G>A (DYNC2LI1) | NP_001335841.1:n.*16-3312G>A | |
| NM_001348913.1:c.*16-3312G>A (DYNC2LI1) | NP_001335842.1:n.*16-3312G>A | |
| XM_005264480.4:c.1163C>T (ABCG5) | XP_005264537.1:p.Thr388Met | |
| XM_006712073.3:c.1163C>T (ABCG5) | XP_006712136.1:p.Thr388Met | |
| XM_011533024.2:c.1163C>T (ABCG5) | XP_011531326.1:p.Thr388Met | |
| XM_011533025.3:c.920C>T (ABCG5) | XP_011531327.1:p.Thr307Met | |
| XM_011533026.2:c.893C>T (ABCG5) | XP_011531328.1:p.Thr298Met | |
| XM_011533027.3:c.650C>T (ABCG5) | XP_011531329.1:p.Thr217Met | |
| XM_011533028.2:c.326C>T (ABCG5) | XP_011531330.1:p.Thr109Met | |
| NM_022436.3:c.1163C>T (ABCG5) MANE Select | NP_071881.1:p.Thr388Met | |
| NM_001348912.2:c.*16-3312G>A (DYNC2LI1) | NP_001335841.1:n.*16-3312G>A | |
| NM_001348913.2:c.*16-3312G>A (DYNC2LI1) | NP_001335842.1:n.*16-3312G>A |