Linked Data
ClinVar Variation Id:
502765
dbSNP Id:
rs140899003
ExAC:
2:44047136 T / C
gnomAD v2:
2-44047136-T-C
gnomAD v3:
2-43819997-T-C
gnomAD v4:
2-43819997-T-C
COSMIC:
COSM4167950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43819997T>C , CM000664.2:g.43819997T>C | GRCh38 |
| NC_000002.11:g.44047136T>C , CM000664.1:g.44047136T>C | GRCh37 |
| NC_000002.10:g.43900640T>C | NCBI36 |
| NG_008883.1:g.23823A>G | |
| NG_053008.1:g.50959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1567A>G (ABCG5) MANE Select | ENSP00000384513.2:p.Ile523Val | |
| ENST00000644754.1:n.1951A>G (ABCG5) | ||
| ENST00000260645.5:c.1567A>G (ABCG5) | ENSP00000260645.1:p.Ile523Val | |
| ENST00000405322.5:c.1054A>G (ABCG5) | ENSP00000384513.1:p.Ile352Val | |
| ENST00000409962.1:c.*441A>G (ABCG5) | ENSP00000386501.1:n.*441A>G | |
| ENST00000486512.5:c.*836A>G (ABCG5) | ENSP00000430935.1:n.*836A>G | |
| NM_022436.2:c.1567A>G (ABCG5) | NP_071881.1:p.Ile523Val | |
| XM_005264364.3:c.*16-7389T>C (DYNC2LI1) | XP_005264421.1:n.*16-7389T>C | |
| XM_005264365.3:c.*16-7389T>C (DYNC2LI1) | XP_005264422.1:n.*16-7389T>C | |
| XM_005264480.2:c.1567A>G (ABCG5) | XP_005264537.1:p.Ile523Val | |
| XM_006712073.2:c.1567A>G (ABCG5) | XP_006712136.1:p.Ile523Val | |
| XM_011533024.1:c.1432A>G (ABCG5) | XP_011531326.1:p.Ile478Val | |
| XM_011533025.1:c.1324A>G (ABCG5) | XP_011531327.1:p.Ile442Val | |
| XM_011533026.1:c.1297A>G (ABCG5) | XP_011531328.1:p.Ile433Val | |
| XM_011533027.1:c.1054A>G (ABCG5) | XP_011531329.1:p.Ile352Val | |
| XM_011533028.1:c.730A>G (ABCG5) | XP_011531330.1:p.Ile244Val | |
| NM_001348912.1:c.*16-7389T>C (DYNC2LI1) | NP_001335841.1:n.*16-7389T>C | |
| NM_001348913.1:c.*16-7389T>C (DYNC2LI1) | NP_001335842.1:n.*16-7389T>C | |
| XM_005264480.4:c.1567A>G (ABCG5) | XP_005264537.1:p.Ile523Val | |
| XM_006712073.3:c.1567A>G (ABCG5) | XP_006712136.1:p.Ile523Val | |
| XM_011533024.2:c.1432A>G (ABCG5) | XP_011531326.1:p.Ile478Val | |
| XM_011533025.3:c.1324A>G (ABCG5) | XP_011531327.1:p.Ile442Val | |
| XM_011533026.2:c.1297A>G (ABCG5) | XP_011531328.1:p.Ile433Val | |
| XM_011533027.3:c.1054A>G (ABCG5) | XP_011531329.1:p.Ile352Val | |
| XM_011533028.2:c.730A>G (ABCG5) | XP_011531330.1:p.Ile244Val | |
| NM_022436.3:c.1567A>G (ABCG5) MANE Select | NP_071881.1:p.Ile523Val | |
| NM_001348912.2:c.*16-7389T>C (DYNC2LI1) | NP_001335841.1:n.*16-7389T>C | |
| NM_001348913.2:c.*16-7389T>C (DYNC2LI1) | NP_001335842.1:n.*16-7389T>C |