Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135497863G>T , CM000668.2:g.135497863G>T | GRCh38 |
| NC_000006.11:g.135819001G>T , CM000668.1:g.135819001G>T | GRCh37 |
| NC_000006.10:g.135860694G>T | NCBI36 |
| NG_008643.1:g.4903C>A | |
| NG_008643.2:g.4903C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680033.1:c.-2379C>A (AHI1) | ENSP00000506426.1:n.-2379C>A | |
| ENST00000681022.1:c.-2379C>A (AHI1) | ENSP00000505121.1:n.-2379C>A | |
| NR_026805.1:n.63G>T (AHI1-DT) | ||
| NR_152842.1:n.63G>T (AHI1-DT) | ||
| NR_152843.1:n.63G>T (AHI1-DT) | ||
| NR_152844.1:n.63G>T (AHI1-DT) | ||
| NR_152845.1:n.63G>T (AHI1-DT) |