Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73359833A= , CM000677.2:g.73359833A= | GRCh38 |
| NC_000015.9:g.73652174A= , CM000677.1:g.73652174A= | GRCh37 |
| NC_000015.8:g.71439227A= | NCBI36 |
| NG_009063.1:g.14432T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.785+7653T= MANE Select | NP_005468.1:n.785+7653T= |
| ENST00000261917.4:c.785+7653T= MANE Select | ENSP00000261917.3:n.785+7653T= |
| NM_005477.2:c.785+7653T= | NP_005468.1:n.785+7653T= |
| ENST00000261917.3:c.785+7653T= | ENSP00000261917.3:n.785+7653T= |