Linked Data
ClinVar Variation Id:
64647
ClinVar RCV Id:
RCV000054817
dbSNP Id:
rs397514757
PubMed:
PMID:23519333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219218166T>C , CM000664.2:g.219218166T>C | GRCh38 |
| NC_000002.11:g.220082888T>C , CM000664.1:g.220082888T>C | GRCh37 |
| NC_000002.10:g.219791132T>C | NCBI36 |
| NG_032110.1:g.5825A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.9:c.508A>G (ABCB6) MANE Select | ENSP00000265316.3:p.Ser170Gly | |
| ENST00000295750.5:c.508A>G (ABCB6) | ENSP00000295750.5:p.Ser170Gly | |
| ENST00000265316.7:c.508A>G (ABCB6) | ENSP00000265316.3:p.Ser170Gly | |
| ENST00000295750.4:c.189A>G (ABCB6) | ||
| ENST00000417678.5:c.261A>G (ABCB6) | ||
| ENST00000446716.5:c.3047A>G (ATG9A) | ||
| ENST00000448398.5:c.311A>G (ABCB6) | ||
| ENST00000452545.1:c.25A>G (ABCB6) | ENSP00000401811.1:p.Ser9Gly | |
| NM_005689.2:c.508A>G (ABCB6) | NP_005680.1:p.Ser170Gly | |
| NM_001349828.1:c.508A>G (ABCB6) | NP_001336757.1:p.Ser170Gly | |
| NM_005689.3:c.508A>G (ABCB6) | NP_005680.1:p.Ser170Gly | |
| NM_005689.4:c.508A>G (ABCB6) MANE Select | NP_005680.1:p.Ser170Gly | |
| NM_001349828.2:c.508A>G (ABCB6) | NP_001336757.1:p.Ser170Gly |