Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46040928C= , CM000666.2:g.46040928C= | GRCh38 |
| NC_000004.11:g.46042945C= , CM000666.1:g.46042945C= | GRCh37 |
| NC_000004.10:g.45737702C= | NCBI36 |
| NG_046964.1:g.88138G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173536.4:c.*60G= MANE Select | NP_775807.2:n.*60G= |
| ENST00000295452.5:c.*60G= MANE Select | ENSP00000295452.4:n.*60G= |
| NM_173536.3:c.*60G= | NP_775807.2:n.*60G= |
| ENST00000295452.4:c.*60G= | ENSP00000295452.4:n.*60G= |
| XM_017007990.2:c.*60G= | XP_016863479.1:n.*60G= |