Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673758T= , CM000682.2:g.10673758T= | GRCh38 |
| NC_000020.10:g.10654406T= , CM000682.1:g.10654406T= | GRCh37 |
| NC_000020.9:g.10602406T= | NCBI36 |
| NG_007496.1:g.5289A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-228A= MANE Select | ENSP00000254958.4:n.-228A= | |
| ENST00000254958.9:c.-228A= | ENSP00000254958.4:n.-228A= | |
| NM_000214.2:c.-228A= | NP_000205.1:n.-228A= | |
| NM_000214.3:c.-228A= MANE Select | NP_000205.1:n.-228A= |