Linked Data
ClinVar Variation Id:
289970
dbSNP Id:
rs777411661
ExAC:
2:44055245 C / T
gnomAD v2:
2-44055245-C-T
gnomAD v3:
2-43828106-C-T
gnomAD v4:
2-43828106-C-T
COSMIC:
COSM1291508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43828106C>T , CM000664.2:g.43828106C>T | GRCh38 |
| NC_000002.11:g.44055245C>T , CM000664.1:g.44055245C>T | GRCh37 |
| NC_000002.10:g.43908749C>T | NCBI36 |
| NG_008883.1:g.15714G>A | |
| NG_053008.1:g.59068C>T | |
| NG_008884.2:g.1165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405322.8:c.511G>A (ABCG5) MANE Select | ENSP00000384513.2:p.Val171Ile | |
| ENST00000644754.1:n.1165G>A (ABCG5) | ||
| ENST00000260645.5:c.511G>A (ABCG5) | ENSP00000260645.1:p.Val171Ile | |
| ENST00000405322.5:c.268G>A (ABCG5) | ENSP00000384513.1:p.Val90Ile | |
| ENST00000409962.1:c.268G>A (ABCG5) | ENSP00000386501.1:p.Val90Ile | |
| ENST00000486512.5:c.*264G>A (ABCG5) | ENSP00000430935.1:n.*264G>A | |
| NM_022436.2:c.511G>A (ABCG5) | NP_071881.1:p.Val171Ile | |
| XM_005264480.2:c.511G>A (ABCG5) | XP_005264537.1:p.Val171Ile | |
| XM_006712073.2:c.511G>A (ABCG5) | XP_006712136.1:p.Val171Ile | |
| XM_006712074.2:c.511G>A (ABCG5) | XP_006712137.1:p.Val171Ile | |
| XM_011533024.1:c.511G>A (ABCG5) | XP_011531326.1:p.Val171Ile | |
| XM_011533025.1:c.268G>A (ABCG5) | XP_011531327.1:p.Val90Ile | |
| XM_011533026.1:c.511G>A (ABCG5) | XP_011531328.1:p.Val171Ile | |
| XM_011533027.1:c.-3G>A (ABCG5) | XP_011531329.1:n.-3G>A | |
| NM_001348912.1:c.*736C>T (DYNC2LI1) | NP_001335841.1:n.*736C>T | |
| NM_001348913.1:c.*736C>T (DYNC2LI1) | NP_001335842.1:n.*736C>T | |
| XM_005264480.4:c.511G>A (ABCG5) | XP_005264537.1:p.Val171Ile | |
| XM_006712073.3:c.511G>A (ABCG5) | XP_006712136.1:p.Val171Ile | |
| XM_006712074.3:c.511G>A (ABCG5) | XP_006712137.1:p.Val171Ile | |
| XM_011533024.2:c.511G>A (ABCG5) | XP_011531326.1:p.Val171Ile | |
| XM_011533025.3:c.268G>A (ABCG5) | XP_011531327.1:p.Val90Ile | |
| XM_011533026.2:c.511G>A (ABCG5) | XP_011531328.1:p.Val171Ile | |
| XM_011533027.3:c.-3G>A (ABCG5) | XP_011531329.1:n.-3G>A | |
| NM_022436.3:c.511G>A (ABCG5) MANE Select | NP_071881.1:p.Val171Ile | |
| NM_001348912.2:c.*736C>T (DYNC2LI1) | NP_001335841.1:n.*736C>T | |
| NM_001348913.2:c.*736C>T (DYNC2LI1) | NP_001335842.1:n.*736C>T |