Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78534667A= , CM000677.2:g.78534667A= | GRCh38 |
| NC_000015.9:g.78827009A= , CM000677.1:g.78827009A= | GRCh37 |
| NC_000015.8:g.76614064A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388988.9:c.*997A= MANE Select | ENSP00000373640.4:n.*997A= | |
| ENST00000408962.6:c.662-2633A= | ENSP00000386197.2:n.662-2633A= | |
| ENST00000563233.2:c.662-2633A= | ENSP00000454850.1:n.662-2633A= | |
| ENST00000569878.5:c.2119A= | ENSP00000455459.1:n.2119A= | |
| NM_001083612.1:c.662-2633A= | NP_001077081.1:n.662-2633A= | |
| NM_001013619.3:c.*997A= | NP_001013641.2:n.*997A= | |
| NM_001013619.4:c.*997A= MANE Select | NP_001013641.2:n.*997A= | |
| NM_001083612.2:c.662-2633A= | NP_001077081.1:n.662-2633A= |