Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116857528A= , CM000674.2:g.116857528A= | GRCh38 |
| NC_000012.11:g.117295333A= , CM000674.1:g.117295333A= | GRCh37 |
| NC_000012.10:g.115779716A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003806.4:c.*3995T= MANE Select | NP_003797.1:n.*3995T= |
| ENST00000257572.5:c.*3995T= MANE Select | ENSP00000257572.4:n.*3995T= |
| NM_003806.3:c.*3995T= | NP_003797.1:n.*3995T= |
| NR_073189.2:n.4731T= | |
| NR_073189.3:n.4745T= | |
| XM_017020146.1:c.*4307T= | XP_016875635.1:n.*4307T= |