Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72016512C= , CM000674.2:g.72016512C= | GRCh38 |
| NC_000012.11:g.72410292C= , CM000674.1:g.72410292C= | GRCh37 |
| NC_000012.10:g.70696559C= | NCBI36 |
| NG_008279.1:g.82667C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1069-5887C= MANE Select | NP_775489.2:n.1069-5887C= |
| ENST00000333850.4:c.1069-5887C= MANE Select | ENSP00000329093.3:n.1069-5887C= |
| NM_173353.3:c.1069-5887C= | NP_775489.2:n.1069-5887C= |
| ENST00000333850.3:c.1069-5887C= | ENSP00000329093.3:n.1069-5887C= |
| XM_011537899.1:c.475-5887C= | XP_011536201.1:n.475-5887C= |