Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49560304T= , CM000665.2:g.49560304T= | GRCh38 |
| NC_000003.11:g.49597737T= , CM000665.1:g.49597737T= | GRCh37 |
| NC_000003.10:g.49572741T= | NCBI36 |
| NG_015892.1:g.10816T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003458.4:c.224+5478T= MANE Select | NP_003449.2:n.224+5478T= |
| ENST00000296452.5:c.224+5478T= MANE Select | ENSP00000296452.4:n.224+5478T= |
| NM_003458.3:c.224+5478T= | NP_003449.2:n.224+5478T= |
| ENST00000296452.4:c.224+5478T= | ENSP00000296452.4:n.224+5478T= |