Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59866020G= , CM000673.2:g.59866020G= | GRCh38 |
| NC_000011.9:g.59633493G= , CM000673.1:g.59633493G= | GRCh37 |
| NC_000011.8:g.59390069G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001062.4:c.79+372C= MANE Select | NP_001053.2:n.79+372C= |
| ENST00000257264.4:c.79+372C= MANE Select | ENSP00000257264.3:n.79+372C= |
| NM_001062.3:c.79+372C= | NP_001053.2:n.79+372C= |
| ENST00000257264.3:c.79+372C= | ENSP00000257264.3:n.79+372C= |
| ENST00000532419.5:n.98+372C= | |
| ENST00000534531.1:n.80+372C= |