Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670641T= , CM000666.2:g.68670641T= | GRCh38 |
| NC_000004.11:g.69536359T= , CM000666.1:g.69536359T= | GRCh37 |
| NC_000004.10:g.69218954T= | NCBI36 |
| NG_052676.1:g.5136A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.-23A= MANE Select | ENSP00000341045.5:n.-23A= | |
| NM_001076.3:c.-23A= | NP_001067.2:n.-23A= | |
| NM_001076.4:c.-23A= MANE Select | NP_001067.2:n.-23A= |