Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156971742C= , CM000666.2:g.156971742C= | GRCh38 |
| NC_000004.11:g.157892894C= , CM000666.1:g.157892894C= | GRCh37 |
| NC_000004.10:g.158112344C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.-839G= MANE Select | ENSP00000422464.1:n.-839G= | |
| NM_016205.3:c.-839G= MANE Select | NP_057289.1:n.-839G= | |
| NR_036641.2:n.58G= |