Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673830T= , CM000682.2:g.10673830T= | GRCh38 |
| NC_000020.10:g.10654478T= , CM000682.1:g.10654478T= | GRCh37 |
| NC_000020.9:g.10602478T= | NCBI36 |
| NG_007496.1:g.5217A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-300A= MANE Select | ENSP00000254958.4:n.-300A= | |
| ENST00000254958.9:c.-300A= | ENSP00000254958.4:n.-300A= | |
| NM_000214.2:c.-300A= | NP_000205.1:n.-300A= | |
| NM_000214.3:c.-300A= MANE Select | NP_000205.1:n.-300A= |