Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46499657T>A , CM000665.2:g.46499657T>A | GRCh38 |
| NC_000003.11:g.46541147T>A , CM000665.1:g.46541147T>A | GRCh37 |
| NC_000003.10:g.46516151T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031440.2:c.156-699T>A MANE Select | NP_113628.1:n.156-699T>A |
| ENST00000296142.4:c.156-699T>A MANE Select | ENSP00000296142.3:n.156-699T>A |
| NM_031440.1:c.156-699T>A | NP_113628.1:n.156-699T>A |
| ENST00000296142.3:c.156-699T>A | ENSP00000296142.3:n.156-699T>A |
| ENST00000684260.1:c.156-699T>A | ENSP00000507138.1:n.156-699T>A |