Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48726522G= , CM000682.2:g.48726522G= | GRCh38 |
| NC_000020.10:g.47343059G= , CM000682.1:g.47343059G= | GRCh37 |
| NC_000020.9:g.46776466G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020820.4:c.520-131C= MANE Select | NP_065871.3:n.520-131C= |
| ENST00000371941.4:c.520-131C= MANE Select | ENSP00000361009.3:n.520-131C= |
| NM_020820.3:c.520-131C= | NP_065871.2:n.520-131C= |
| ENST00000371941.3:c.520-131C= | ENSP00000361009.3:n.520-131C= |