Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673708A= , CM000682.2:g.10673708A= | GRCh38 |
| NC_000020.10:g.10654356A= , CM000682.1:g.10654356A= | GRCh37 |
| NC_000020.9:g.10602356A= | NCBI36 |
| NG_007496.1:g.5339T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-178T= MANE Select | ENSP00000254958.4:n.-178T= | |
| ENST00000254958.9:c.-178T= | ENSP00000254958.4:n.-178T= | |
| NM_000214.2:c.-178T= | NP_000205.1:n.-178T= | |
| NM_000214.3:c.-178T= MANE Select | NP_000205.1:n.-178T= |