Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225428125C>T , CM000663.2:g.225428125C>T | GRCh38 |
| NC_000001.10:g.225615827C>T , CM000663.1:g.225615827C>T | GRCh37 |
| NC_000001.9:g.223682450C>T | NCBI36 |
| NG_008099.1:g.5693G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194442.2:c.-15+581G>A | NP_919424.1:n.-15+581G>A |
| NM_194442.3:c.-15+581G>A | NP_919424.1:n.-15+581G>A |
| ENST00000338179.6:c.-15+581G>A | ENSP00000339883.2:n.-15+581G>A |
| ENST00000425080.1:c.-15+581G>A | ENSP00000388059.1:n.-15+581G>A |