Linked Data
ClinVar Variation Id:
4977
ClinVar RCV Id:
RCV000005265
dbSNP Id:
rs119479066
ExAC:
2:44053568 G / A
gnomAD v2:
2-44053568-G-A
gnomAD v3:
2-43826429-G-A
gnomAD v4:
2-43826429-G-A
PubMed:
PMID:11138003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43826429G>A , CM000664.2:g.43826429G>A | GRCh38 |
| NC_000002.11:g.44053568G>A , CM000664.1:g.44053568G>A | GRCh37 |
| NC_000002.10:g.43907072G>A | NCBI36 |
| NG_008883.1:g.17391C>T | |
| NG_053008.1:g.57391G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405322.8:c.727C>T (ABCG5) MANE Select | ENSP00000384513.2:p.Arg243Ter | |
| ENST00000644754.1:n.1288+1554C>T (ABCG5) | ||
| ENST00000260645.5:c.727C>T (ABCG5) | ENSP00000260645.1:p.Arg243Ter | |
| ENST00000405322.5:c.391+1554C>T (ABCG5) | ENSP00000384513.1:n.391+1554C>T | |
| ENST00000409962.1:c.391+1554C>T (ABCG5) | ENSP00000386501.1:n.391+1554C>T | |
| ENST00000486512.5:c.*387+1554C>T (ABCG5) | ENSP00000430935.1:n.*387+1554C>T | |
| NM_022436.2:c.727C>T (ABCG5) | NP_071881.1:p.Arg243Ter | |
| XM_005264364.3:c.*16-957G>A (DYNC2LI1) | XP_005264421.1:n.*16-957G>A | |
| XM_005264365.3:c.*16-957G>A (DYNC2LI1) | XP_005264422.1:n.*16-957G>A | |
| XM_005264480.2:c.727C>T (ABCG5) | XP_005264537.1:p.Arg243Ter | |
| XM_006712073.2:c.727C>T (ABCG5) | XP_006712136.1:p.Arg243Ter | |
| XM_006712074.2:c.727C>T (ABCG5) | XP_006712137.1:p.Arg243Ter | |
| XM_011533024.1:c.727C>T (ABCG5) | XP_011531326.1:p.Arg243Ter | |
| XM_011533025.1:c.484C>T (ABCG5) | XP_011531327.1:p.Arg162Ter | |
| XM_011533026.1:c.634+1554C>T (ABCG5) | XP_011531328.1:n.634+1554C>T | |
| XM_011533027.1:c.214C>T (ABCG5) | XP_011531329.1:p.Arg72Ter | |
| XM_011533028.1:c.-63-1411C>T (ABCG5) | XP_011531330.1:n.-63-1411C>T | |
| NM_001348912.1:c.*16-957G>A (DYNC2LI1) | NP_001335841.1:n.*16-957G>A | |
| NM_001348913.1:c.*16-957G>A (DYNC2LI1) | NP_001335842.1:n.*16-957G>A | |
| XM_005264480.4:c.727C>T (ABCG5) | XP_005264537.1:p.Arg243Ter | |
| XM_006712073.3:c.727C>T (ABCG5) | XP_006712136.1:p.Arg243Ter | |
| XM_006712074.3:c.727C>T (ABCG5) | XP_006712137.1:p.Arg243Ter | |
| XM_011533024.2:c.727C>T (ABCG5) | XP_011531326.1:p.Arg243Ter | |
| XM_011533025.3:c.484C>T (ABCG5) | XP_011531327.1:p.Arg162Ter | |
| XM_011533026.2:c.634+1554C>T (ABCG5) | XP_011531328.1:n.634+1554C>T | |
| XM_011533027.3:c.214C>T (ABCG5) | XP_011531329.1:p.Arg72Ter | |
| XM_011533028.2:c.-63-1411C>T (ABCG5) | XP_011531330.1:n.-63-1411C>T | |
| NM_022436.3:c.727C>T (ABCG5) MANE Select | NP_071881.1:p.Arg243Ter | |
| NM_001348912.2:c.*16-957G>A (DYNC2LI1) | NP_001335841.1:n.*16-957G>A | |
| NM_001348913.2:c.*16-957G>A (DYNC2LI1) | NP_001335842.1:n.*16-957G>A |