Linked Data
dbSNP Id:
rs13430864
gnomAD v2:
2-201648639-T-G
gnomAD v3:
2-200783916-T-G
gnomAD v4:
2-200783916-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.200783916T>G , CM000664.2:g.200783916T>G | GRCh38 |
| NC_000002.11:g.201648639T>G , CM000664.1:g.201648639T>G | GRCh37 |
| NC_000002.10:g.201356884T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487742.7:n.3191+3102T>G (AOX2P) | ||
| ENST00000467645.1:n.1294+1478T>G (AOX2P) | ||
| ENST00000487742.5:n.3086+3102T>G (AOX2P) | ||
| NR_001557.4:n.3575+1478T>G (AOX2P) | ||
| NR_110275.1:n.583-3127A>C (BZW1-AS1) | ||
| NR_135011.1:n.4203+3102T>G (AOX3P-AOX2P) | ||
| NR_135012.1:n.3696+3102T>G (AOX3P-AOX2P) |