Linked Data
ClinVar Variation Id:
30479
ClinVar RCV Id:
RCV000023436
dbSNP Id:
rs376664522
ExAC:
2:220077135 G / A
gnomAD v2:
2-220077135-G-A
gnomAD v3:
2-219212413-G-A
gnomAD v4:
2-219212413-G-A
PubMed:
PMID:22246506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219212413G>A , CM000664.2:g.219212413G>A | GRCh38 |
| NC_000002.11:g.220077135G>A , CM000664.1:g.220077135G>A | GRCh37 |
| NC_000002.10:g.219785379G>A | NCBI36 |
| NG_032110.1:g.11578C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.9:c.1942C>T (ABCB6) MANE Select | ENSP00000265316.3:p.Arg648Ter | |
| ENST00000295750.5:c.1804C>T (ABCB6) | ENSP00000295750.5:p.Arg602Ter | |
| ENST00000265316.7:c.1942C>T (ABCB6) | ENSP00000265316.3:p.Arg648Ter | |
| ENST00000295750.4:c.1485C>T (ABCB6) | ||
| ENST00000446716.5:c.4667C>T (ATG9A) | ||
| ENST00000492543.1:n.492C>T (ABCB6) | ||
| ENST00000497882.5:n.2255C>T (ABCB6) | ||
| NM_005689.2:c.1942C>T (ABCB6) | NP_005680.1:p.Arg648Ter | |
| NM_001349828.1:c.1804C>T (ABCB6) | NP_001336757.1:p.Arg602Ter | |
| NM_005689.3:c.1942C>T (ABCB6) | NP_005680.1:p.Arg648Ter | |
| NM_005689.4:c.1942C>T (ABCB6) MANE Select | NP_005680.1:p.Arg648Ter | |
| NM_001349828.2:c.1804C>T (ABCB6) | NP_001336757.1:p.Arg602Ter |