Linked Data
ClinVar Variation Id:
4976
ClinVar RCV Id:
RCV000005264
dbSNP Id:
rs119479065
ExAC:
2:44051154 G / A
gnomAD v2:
2-44051154-G-A
gnomAD v3:
2-43824015-G-A
gnomAD v4:
2-43824015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43824015G>A , CM000664.2:g.43824015G>A | GRCh38 |
| NC_000002.11:g.44051154G>A , CM000664.1:g.44051154G>A | GRCh37 |
| NC_000002.10:g.43904658G>A | NCBI36 |
| NG_008883.1:g.19805C>T | |
| NG_053008.1:g.54977G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405322.8:c.1222C>T (ABCG5) MANE Select | ENSP00000384513.2:p.Arg408Ter | |
| ENST00000644754.1:n.1606C>T (ABCG5) | ||
| ENST00000260645.5:c.1222C>T (ABCG5) | ENSP00000260645.1:p.Arg408Ter | |
| ENST00000405322.5:c.709C>T (ABCG5) | ENSP00000384513.1:p.Arg237Ter | |
| ENST00000409962.1:c.*96C>T (ABCG5) | ENSP00000386501.1:n.*96C>T | |
| ENST00000486512.5:c.*491C>T (ABCG5) | ENSP00000430935.1:n.*491C>T | |
| NM_022436.2:c.1222C>T (ABCG5) | NP_071881.1:p.Arg408Ter | |
| XM_005264364.3:c.*16-3371G>A (DYNC2LI1) | XP_005264421.1:n.*16-3371G>A | |
| XM_005264365.3:c.*16-3371G>A (DYNC2LI1) | XP_005264422.1:n.*16-3371G>A | |
| XM_005264480.2:c.1222C>T (ABCG5) | XP_005264537.1:p.Arg408Ter | |
| XM_006712073.2:c.1222C>T (ABCG5) | XP_006712136.1:p.Arg408Ter | |
| XM_011533024.1:c.1189+33C>T (ABCG5) | XP_011531326.1:n.1189+33C>T | |
| XM_011533025.1:c.979C>T (ABCG5) | XP_011531327.1:p.Arg327Ter | |
| XM_011533026.1:c.952C>T (ABCG5) | XP_011531328.1:p.Arg318Ter | |
| XM_011533027.1:c.709C>T (ABCG5) | XP_011531329.1:p.Arg237Ter | |
| XM_011533028.1:c.385C>T (ABCG5) | XP_011531330.1:p.Arg129Ter | |
| NM_001348912.1:c.*16-3371G>A (DYNC2LI1) | NP_001335841.1:n.*16-3371G>A | |
| NM_001348913.1:c.*16-3371G>A (DYNC2LI1) | NP_001335842.1:n.*16-3371G>A | |
| XM_005264480.4:c.1222C>T (ABCG5) | XP_005264537.1:p.Arg408Ter | |
| XM_006712073.3:c.1222C>T (ABCG5) | XP_006712136.1:p.Arg408Ter | |
| XM_011533024.2:c.1189+33C>T (ABCG5) | XP_011531326.1:n.1189+33C>T | |
| XM_011533025.3:c.979C>T (ABCG5) | XP_011531327.1:p.Arg327Ter | |
| XM_011533026.2:c.952C>T (ABCG5) | XP_011531328.1:p.Arg318Ter | |
| XM_011533027.3:c.709C>T (ABCG5) | XP_011531329.1:p.Arg237Ter | |
| XM_011533028.2:c.385C>T (ABCG5) | XP_011531330.1:p.Arg129Ter | |
| NM_022436.3:c.1222C>T (ABCG5) MANE Select | NP_071881.1:p.Arg408Ter | |
| NM_001348912.2:c.*16-3371G>A (DYNC2LI1) | NP_001335841.1:n.*16-3371G>A | |
| NM_001348913.2:c.*16-3371G>A (DYNC2LI1) | NP_001335842.1:n.*16-3371G>A |