Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99536106A= , CM000672.2:g.99536106A= | GRCh38 |
| NC_000010.10:g.101295863A= , CM000672.1:g.101295863A= | GRCh37 |
| NC_000010.9:g.101285853A= | NCBI36 |
| NG_016854.1:g.8174A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145285.3:c.*385A= MANE Select | NP_660328.2:n.*385A= |
| ENST00000344586.9:c.*385A= MANE Select | ENSP00000342828.7:n.*385A= |
| NM_145285.2:c.*385A= | NP_660328.2:n.*385A= |
| ENST00000344586.8:c.*385A= | ENSP00000342828.7:n.*385A= |
| ENST00000622383.1:c.*501A= | ENSP00000479692.1:n.*501A= |