Linked Data
ClinVar Variation Id:
217872
dbSNP Id:
rs149202834
ExAC:
2:220082505 G / A
gnomAD v2:
2-220082505-G-A
gnomAD v3:
2-219217783-G-A
gnomAD v4:
2-219217783-G-A
PubMed:
PMID:22958180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219217783G>A , CM000664.2:g.219217783G>A | GRCh38 |
| NC_000002.11:g.220082505G>A , CM000664.1:g.220082505G>A | GRCh37 |
| NC_000002.10:g.219790749G>A | NCBI36 |
| NG_032110.1:g.6208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.574C>T (ABCB6) MANE Select | ENSP00000265316.3:p.Arg192Trp | |
| ENST00000295750.5:c.549+342C>T (ABCB6) | ENSP00000295750.5:n.549+342C>T | |
| ENST00000265316.7:c.574C>T (ABCB6) | ENSP00000265316.3:p.Arg192Trp | |
| ENST00000295750.4:c.230+342C>T (ABCB6) | ||
| ENST00000417678.5:c.327C>T (ABCB6) | ||
| ENST00000446716.5:c.3113C>T (ATG9A) | ||
| ENST00000448398.5:c.352+342C>T (ABCB6) | ||
| ENST00000452545.1:c.91C>T (ABCB6) | ENSP00000401811.1:p.Arg31Trp | |
| NM_005689.2:c.574C>T (ABCB6) | NP_005680.1:p.Arg192Trp | |
| NM_001349828.1:c.549+342C>T (ABCB6) | NP_001336757.1:n.549+342C>T | |
| NM_005689.3:c.574C>T (ABCB6) | NP_005680.1:p.Arg192Trp | |
| NM_005689.4:c.574C>T (ABCB6) MANE Select | NP_005680.1:p.Arg192Trp | |
| NM_001349828.2:c.549+342C>T (ABCB6) | NP_001336757.1:n.549+342C>T |