Linked Data
ClinVar Variation Id:
4978
ClinVar RCV Id:
RCV000005266
dbSNP Id:
rs119479067
gnomAD v2:
2-44051120-C-T
gnomAD v3:
2-43823981-C-T
gnomAD v4:
2-43823981-C-T
PubMed:
PMID:11138003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43823981C>T , CM000664.2:g.43823981C>T | GRCh38 |
| NC_000002.11:g.44051120C>T , CM000664.1:g.44051120C>T | GRCh37 |
| NC_000002.10:g.43904624C>T | NCBI36 |
| NG_008883.1:g.19839G>A | |
| NG_053008.1:g.54943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1256G>A (ABCG5) MANE Select | ENSP00000384513.2:p.Arg419His | |
| ENST00000644754.1:n.1640G>A (ABCG5) | ||
| ENST00000260645.5:c.1256G>A (ABCG5) | ENSP00000260645.1:p.Arg419His | |
| ENST00000405322.5:c.743G>A (ABCG5) | ENSP00000384513.1:p.Arg248His | |
| ENST00000409962.1:c.*130G>A (ABCG5) | ENSP00000386501.1:n.*130G>A | |
| ENST00000486512.5:c.*525G>A (ABCG5) | ENSP00000430935.1:n.*525G>A | |
| NM_022436.2:c.1256G>A (ABCG5) | NP_071881.1:p.Arg419His | |
| XM_005264364.3:c.*16-3405C>T (DYNC2LI1) | XP_005264421.1:n.*16-3405C>T | |
| XM_005264365.3:c.*16-3405C>T (DYNC2LI1) | XP_005264422.1:n.*16-3405C>T | |
| XM_005264480.2:c.1256G>A (ABCG5) | XP_005264537.1:p.Arg419His | |
| XM_006712073.2:c.1256G>A (ABCG5) | XP_006712136.1:p.Arg419His | |
| XM_011533024.1:c.1189+67G>A (ABCG5) | XP_011531326.1:n.1189+67G>A | |
| XM_011533025.1:c.1013G>A (ABCG5) | XP_011531327.1:p.Arg338His | |
| XM_011533026.1:c.986G>A (ABCG5) | XP_011531328.1:p.Arg329His | |
| XM_011533027.1:c.743G>A (ABCG5) | XP_011531329.1:p.Arg248His | |
| XM_011533028.1:c.419G>A (ABCG5) | XP_011531330.1:p.Arg140His | |
| NM_001348912.1:c.*16-3405C>T (DYNC2LI1) | NP_001335841.1:n.*16-3405C>T | |
| NM_001348913.1:c.*16-3405C>T (DYNC2LI1) | NP_001335842.1:n.*16-3405C>T | |
| XM_005264480.4:c.1256G>A (ABCG5) | XP_005264537.1:p.Arg419His | |
| XM_006712073.3:c.1256G>A (ABCG5) | XP_006712136.1:p.Arg419His | |
| XM_011533024.2:c.1189+67G>A (ABCG5) | XP_011531326.1:n.1189+67G>A | |
| XM_011533025.3:c.1013G>A (ABCG5) | XP_011531327.1:p.Arg338His | |
| XM_011533026.2:c.986G>A (ABCG5) | XP_011531328.1:p.Arg329His | |
| XM_011533027.3:c.743G>A (ABCG5) | XP_011531329.1:p.Arg248His | |
| XM_011533028.2:c.419G>A (ABCG5) | XP_011531330.1:p.Arg140His | |
| NM_022436.3:c.1256G>A (ABCG5) MANE Select | NP_071881.1:p.Arg419His | |
| NM_001348912.2:c.*16-3405C>T (DYNC2LI1) | NP_001335841.1:n.*16-3405C>T | |
| NM_001348913.2:c.*16-3405C>T (DYNC2LI1) | NP_001335842.1:n.*16-3405C>T |