Linked Data
ClinVar Variation Id:
30483
dbSNP Id:
rs387906911
ExAC:
2:220083227 C / T
gnomAD v2:
2-220083227-C-T
gnomAD v3:
2-219218505-C-T
gnomAD v4:
2-219218505-C-T
PubMed:
PMID:22226084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219218505C>T , CM000664.2:g.219218505C>T | GRCh38 |
| NC_000002.11:g.220083227C>T , CM000664.1:g.220083227C>T | GRCh37 |
| NC_000002.10:g.219791471C>T | NCBI36 |
| NG_032110.1:g.5486G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265316.9:c.169G>A (ABCB6) MANE Select | ENSP00000265316.3:p.Ala57Thr | |
| ENST00000295750.5:c.169G>A (ABCB6) | ENSP00000295750.5:p.Ala57Thr | |
| ENST00000265316.7:c.169G>A (ABCB6) | ENSP00000265316.3:p.Ala57Thr | |
| ENST00000446716.5:c.2708G>A (ATG9A) | ||
| NM_005689.2:c.169G>A (ABCB6) | NP_005680.1:p.Ala57Thr | |
| NM_001349828.1:c.169G>A (ABCB6) | NP_001336757.1:p.Ala57Thr | |
| NM_005689.3:c.169G>A (ABCB6) | NP_005680.1:p.Ala57Thr | |
| NM_005689.4:c.169G>A (ABCB6) MANE Select | NP_005680.1:p.Ala57Thr | |
| NM_001349828.2:c.169G>A (ABCB6) | NP_001336757.1:p.Ala57Thr |