Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26484660A= , CM000666.2:g.26484660A= | GRCh38 |
| NC_000004.11:g.26486282A= , CM000666.1:g.26486282A= | GRCh37 |
| NC_000004.10:g.26095380A= | NCBI36 |
| NG_012053.1:g.10761T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000730.3:c.626+977T= MANE Select | NP_000721.1:n.626+977T= |
| ENST00000295589.4:c.626+977T= MANE Select | ENSP00000295589.3:n.626+977T= |
| NM_000730.2:c.626+977T= | NP_000721.1:n.626+977T= |
| ENST00000295589.3:c.626+977T= | ENSP00000295589.3:n.626+977T= |