Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46103850T= , CM000666.2:g.46103850T= | GRCh38 |
| NC_000004.11:g.46105867T= , CM000666.1:g.46105867T= | GRCh37 |
| NC_000004.10:g.45800624T= | NCBI36 |
| NG_046964.1:g.25216A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.105-6501A= MANE Select | ENSP00000295452.4:n.105-6501A= | |
| ENST00000295452.4:c.105-6501A= | ENSP00000295452.4:n.105-6501A= | |
| NM_173536.3:c.105-6501A= | NP_775807.2:n.105-6501A= | |
| NM_173536.4:c.105-6501A= MANE Select | NP_775807.2:n.105-6501A= |