Linked Data
ClinVar Variation Id:
218179
ClinVar RCV Id:
RCV000202403
dbSNP Id:
rs754667801
ExAC:
2:220080749 C / T
gnomAD v2:
2-220080749-C-T
gnomAD v3:
2-219216027-C-T
gnomAD v4:
2-219216027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219216027C>T , CM000664.2:g.219216027C>T | GRCh38 |
| NC_000002.11:g.220080749C>T , CM000664.1:g.220080749C>T | GRCh37 |
| NC_000002.10:g.219788993C>T | NCBI36 |
| NG_032110.1:g.7964G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.9:c.1124G>A (ABCB6) MANE Select | ENSP00000265316.3:p.Arg375Gln | |
| ENST00000295750.5:c.986G>A (ABCB6) | ENSP00000295750.5:p.Arg329Gln | |
| ENST00000265316.7:c.1124G>A (ABCB6) | ENSP00000265316.3:p.Arg375Gln | |
| ENST00000295750.4:c.667G>A (ABCB6) | ||
| ENST00000417678.5:c.542+337G>A (ABCB6) | ||
| ENST00000446716.5:c.3849G>A (ATG9A) | ||
| ENST00000448398.5:c.353-1529G>A (ABCB6) | ||
| ENST00000452545.1:c.460G>A (ABCB6) | ENSP00000401811.1:n.460G>A | |
| ENST00000492953.5:n.262G>A (ABCB6) | ||
| NM_005689.2:c.1124G>A (ABCB6) | NP_005680.1:p.Arg375Gln | |
| NM_001349828.1:c.986G>A (ABCB6) | NP_001336757.1:p.Arg329Gln | |
| NM_005689.3:c.1124G>A (ABCB6) | NP_005680.1:p.Arg375Gln | |
| NM_005689.4:c.1124G>A (ABCB6) MANE Select | NP_005680.1:p.Arg375Gln | |
| NM_001349828.2:c.986G>A (ABCB6) | NP_001336757.1:p.Arg329Gln |