Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111494T= , CM000674.2:g.91111494T= | GRCh38 |
| NC_000012.11:g.91505271T= , CM000674.1:g.91505271T= | GRCh37 |
| NC_000012.10:g.90029402T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.-118A= MANE Select | ENSP00000266718.4:n.-118A= | |
| ENST00000266718.4:c.-118A= | ENSP00000266718.4:n.-118A= | |
| NM_002345.3:c.-118A= | NP_002336.1:n.-118A= | |
| NM_002345.4:c.-118A= MANE Select | NP_002336.1:n.-118A= |