Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84863645G= , CM000677.2:g.84863645G= | GRCh38 |
| NC_000015.9:g.85406876G= , CM000677.1:g.85406876G= | GRCh37 |
| NC_000015.8:g.83207880G= | NCBI36 |
| NG_054748.1:g.52015G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.4499+5G= MANE Select | NP_065829.4:n.4499+5G= |
| ENST00000258888.6:c.4499+5G= MANE Select | ENSP00000258888.6:n.4499+5G= |
| NM_020778.4:c.5105+5G= | NP_065829.3:n.5105+5G= |
| ENST00000258888.5:c.5105+5G= | ENSP00000258888.5:n.5105+5G= |
| ENST00000558077.1:n.112+5G= |