Linked Data
dbSNP Id:
rs751784788
ExAC:
2:44051234 C / T
gnomAD v2:
2-44051234-C-T
gnomAD v4:
2-43824095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824095C>T , CM000664.2:g.43824095C>T | GRCh38 |
| NC_000002.11:g.44051234C>T , CM000664.1:g.44051234C>T | GRCh37 |
| NC_000002.10:g.43904738C>T | NCBI36 |
| NG_008883.1:g.19725G>A | |
| NG_053008.1:g.55057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.1142G>A (ABCG5) MANE Select | ENSP00000384513.2:p.Arg381Lys | |
| ENST00000644754.1:n.1526G>A (ABCG5) | ||
| ENST00000260645.5:c.1142G>A (ABCG5) | ENSP00000260645.1:p.Arg381Lys | |
| ENST00000405322.5:c.629G>A (ABCG5) | ENSP00000384513.1:p.Arg210Lys | |
| ENST00000409962.1:c.*16G>A (ABCG5) | ENSP00000386501.1:n.*16G>A | |
| ENST00000486512.5:c.*411G>A (ABCG5) | ENSP00000430935.1:n.*411G>A | |
| NM_022436.2:c.1142G>A (ABCG5) | NP_071881.1:p.Arg381Lys | |
| XM_005264364.3:c.*16-3291C>T (DYNC2LI1) | XP_005264421.1:n.*16-3291C>T | |
| XM_005264365.3:c.*16-3291C>T (DYNC2LI1) | XP_005264422.1:n.*16-3291C>T | |
| XM_005264480.2:c.1142G>A (ABCG5) | XP_005264537.1:p.Arg381Lys | |
| XM_006712073.2:c.1142G>A (ABCG5) | XP_006712136.1:p.Arg381Lys | |
| XM_011533024.1:c.1142G>A (ABCG5) | XP_011531326.1:p.Arg381Lys | |
| XM_011533025.1:c.899G>A (ABCG5) | XP_011531327.1:p.Arg300Lys | |
| XM_011533026.1:c.872G>A (ABCG5) | XP_011531328.1:p.Arg291Lys | |
| XM_011533027.1:c.629G>A (ABCG5) | XP_011531329.1:p.Arg210Lys | |
| XM_011533028.1:c.305G>A (ABCG5) | XP_011531330.1:p.Arg102Lys | |
| NM_001348912.1:c.*16-3291C>T (DYNC2LI1) | NP_001335841.1:n.*16-3291C>T | |
| NM_001348913.1:c.*16-3291C>T (DYNC2LI1) | NP_001335842.1:n.*16-3291C>T | |
| XM_005264480.4:c.1142G>A (ABCG5) | XP_005264537.1:p.Arg381Lys | |
| XM_006712073.3:c.1142G>A (ABCG5) | XP_006712136.1:p.Arg381Lys | |
| XM_011533024.2:c.1142G>A (ABCG5) | XP_011531326.1:p.Arg381Lys | |
| XM_011533025.3:c.899G>A (ABCG5) | XP_011531327.1:p.Arg300Lys | |
| XM_011533026.2:c.872G>A (ABCG5) | XP_011531328.1:p.Arg291Lys | |
| XM_011533027.3:c.629G>A (ABCG5) | XP_011531329.1:p.Arg210Lys | |
| XM_011533028.2:c.305G>A (ABCG5) | XP_011531330.1:p.Arg102Lys | |
| NM_022436.3:c.1142G>A (ABCG5) MANE Select | NP_071881.1:p.Arg381Lys | |
| NM_001348912.2:c.*16-3291C>T (DYNC2LI1) | NP_001335841.1:n.*16-3291C>T | |
| NM_001348913.2:c.*16-3291C>T (DYNC2LI1) | NP_001335842.1:n.*16-3291C>T |