Linked Data
ClinVar Variation Id:
64646
ClinVar RCV Id:
RCV000054816
dbSNP Id:
rs397514756
PubMed:
PMID:23519333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219216084A>G , CM000664.2:g.219216084A>G | GRCh38 |
| NC_000002.11:g.220080806A>G , CM000664.1:g.220080806A>G | GRCh37 |
| NC_000002.10:g.219789050A>G | NCBI36 |
| NG_032110.1:g.7907T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.9:c.1067T>C (ABCB6) MANE Select | ENSP00000265316.3:p.Leu356Pro | |
| ENST00000295750.5:c.929T>C (ABCB6) | ENSP00000295750.5:p.Leu310Pro | |
| ENST00000265316.7:c.1067T>C (ABCB6) | ENSP00000265316.3:p.Leu356Pro | |
| ENST00000295750.4:c.610T>C (ABCB6) | ||
| ENST00000417678.5:c.542+280T>C (ABCB6) | ||
| ENST00000446716.5:c.3792T>C (ATG9A) | ||
| ENST00000448398.5:c.353-1586T>C (ABCB6) | ||
| ENST00000452545.1:c.403T>C (ABCB6) | ENSP00000401811.1:n.403T>C | |
| ENST00000492953.5:n.205T>C (ABCB6) | ||
| NM_005689.2:c.1067T>C (ABCB6) | NP_005680.1:p.Leu356Pro | |
| NM_001349828.1:c.929T>C (ABCB6) | NP_001336757.1:p.Leu310Pro | |
| NM_005689.3:c.1067T>C (ABCB6) | NP_005680.1:p.Leu356Pro | |
| NM_005689.4:c.1067T>C (ABCB6) MANE Select | NP_005680.1:p.Leu356Pro | |
| NM_001349828.2:c.929T>C (ABCB6) | NP_001336757.1:p.Leu310Pro |