Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73455883A= , CM000666.2:g.73455883A= | GRCh38 |
| NC_000004.11:g.74321600A= , CM000666.1:g.74321600A= | GRCh37 |
| NC_000004.10:g.74540464A= | NCBI36 |
| NG_023028.1:g.24668A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.*263A= MANE Select | ENSP00000379138.2:n.*263A= | |
| ENST00000395792.6:c.*263A= | ENSP00000379138.2:n.*263A= | |
| NM_001134.3:c.*263A= MANE Select | NP_001125.1:n.*263A= | |
| NM_001354717.2:c.*263A= | NP_001341646.2:n.*263A= |