Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109755559T= , CM000675.2:g.109755559T= | GRCh38 |
| NC_000013.10:g.110407906T= , CM000675.1:g.110407906T= | GRCh37 |
| NC_000013.9:g.109205907T= | NCBI36 |
| NG_008154.1:g.36009A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003749.3:c.*745A= MANE Select | NP_003740.2:n.*745A= |
| ENST00000375856.5:c.*745A= MANE Select | ENSP00000365016.3:n.*745A= |
| NM_003749.2:c.*745A= | NP_003740.2:n.*745A= |
| ENST00000375856.4:c.*745A= | ENSP00000365016.3:n.*745A= |