Linked Data
ClinVar Variation Id:
64648
ClinVar RCV Id:
RCV000054818
dbSNP Id:
rs397514758
gnomAD v4:
2-219213310-C-T
PubMed:
PMID:23519333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219213310C>T , CM000664.2:g.219213310C>T | GRCh38 |
| NC_000002.11:g.220078032C>T , CM000664.1:g.220078032C>T | GRCh37 |
| NC_000002.10:g.219786276C>T | NCBI36 |
| NG_032110.1:g.10681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.1736G>A (ABCB6) MANE Select | ENSP00000265316.3:p.Gly579Glu | |
| ENST00000295750.5:c.1598G>A (ABCB6) | ENSP00000295750.5:p.Gly533Glu | |
| ENST00000265316.7:c.1736G>A (ABCB6) | ENSP00000265316.3:p.Gly579Glu | |
| ENST00000295750.4:c.1279G>A (ABCB6) | ||
| ENST00000446716.5:c.4461G>A (ATG9A) | ||
| ENST00000448398.5:c.812G>A (ABCB6) | ||
| ENST00000492543.1:n.111G>A (ABCB6) | ||
| ENST00000497882.5:n.2049G>A (ABCB6) | ||
| NM_005689.2:c.1736G>A (ABCB6) | NP_005680.1:p.Gly579Glu | |
| NM_001349828.1:c.1598G>A (ABCB6) | NP_001336757.1:p.Gly533Glu | |
| NM_005689.3:c.1736G>A (ABCB6) | NP_005680.1:p.Gly579Glu | |
| NM_005689.4:c.1736G>A (ABCB6) MANE Select | NP_005680.1:p.Gly579Glu | |
| NM_001349828.2:c.1598G>A (ABCB6) | NP_001336757.1:p.Gly533Glu |