Linked Data
ClinVar Variation Id:
451541
ClinVar RCV Id:
RCV000520814
dbSNP Id:
rs200074767
ExAC:
2:220079112 G / A
gnomAD v2:
2-220079112-G-A
gnomAD v3:
2-219214390-G-A
gnomAD v4:
2-219214390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219214390G>A , CM000664.2:g.219214390G>A | GRCh38 |
| NC_000002.11:g.220079112G>A , CM000664.1:g.220079112G>A | GRCh37 |
| NC_000002.10:g.219787356G>A | NCBI36 |
| NG_032110.1:g.9601C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.1385C>T (ABCB6) MANE Select | ENSP00000265316.3:p.Thr462Met | |
| ENST00000295750.5:c.1247C>T (ABCB6) | ENSP00000295750.5:p.Thr416Met | |
| ENST00000265316.7:c.1385C>T (ABCB6) | ENSP00000265316.3:p.Thr462Met | |
| ENST00000295750.4:c.928C>T (ABCB6) | ||
| ENST00000417678.5:c.773C>T (ABCB6) | ||
| ENST00000446716.5:c.4110C>T (ATG9A) | ||
| ENST00000448398.5:c.461C>T (ABCB6) | ||
| ENST00000492953.5:n.523C>T (ABCB6) | ||
| ENST00000494639.5:n.294C>T (ABCB6) | ||
| ENST00000496984.5:n.586C>T (ABCB6) | ||
| ENST00000497882.5:n.1496C>T (ABCB6) | ||
| NM_005689.2:c.1385C>T (ABCB6) | NP_005680.1:p.Thr462Met | |
| NM_001349828.1:c.1247C>T (ABCB6) | NP_001336757.1:p.Thr416Met | |
| NM_005689.3:c.1385C>T (ABCB6) | NP_005680.1:p.Thr462Met | |
| NM_005689.4:c.1385C>T (ABCB6) MANE Select | NP_005680.1:p.Thr462Met | |
| NM_001349828.2:c.1247C>T (ABCB6) | NP_001336757.1:p.Thr416Met |