Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99071843T= , CM000666.2:g.99071843T= | GRCh38 |
| NC_000004.11:g.99992994T= , CM000666.1:g.99992994T= | GRCh37 |
| NC_000004.10:g.100212017T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000671.4:c.*574A= MANE Select | NP_000662.3:n.*574A= |
| ENST00000296412.14:c.*574A= MANE Select | ENSP00000296412.8:n.*574A= |
| ENST00000296412.12:c.*574A= | ENSP00000296412.8:n.*574A= |
| ENST00000296412.13:c.*574A= | ENSP00000296412.8:n.*574A= |