Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38472642C= , CM000677.2:g.38472642C= | GRCh38 |
| NC_000015.9:g.38764843C= , CM000677.1:g.38764843C= | GRCh37 |
| NC_000015.8:g.36552135C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173611.4:c.532-863C= MANE Select | NP_775882.2:n.532-863C= |
| ENST00000397609.6:c.532-863C= MANE Select | ENSP00000380734.2:n.532-863C= |
| NM_173611.3:c.532-863C= | NP_775882.2:n.532-863C= |
| ENST00000491535.5:c.532-863C= | ENSP00000453166.1:n.532-863C= |
| ENST00000559431.1:c.238-863C= | ENSP00000453926.1:n.238-863C= |