Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268551T= , CM000680.2:g.77268551T= | GRCh38 |
| NC_000018.9:g.74980507T= , CM000680.1:g.74980507T= | GRCh37 |
| NC_000018.8:g.73109495T= | NCBI36 |
| NG_009223.1:g.23500T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-34T= MANE Select | ENSP00000299727.3:n.733-34T= | |
| ENST00000299727.4:c.733-34T= | ENSP00000299727.3:n.733-34T= | |
| NM_001480.3:c.733-34T= | NP_001471.2:n.733-34T= | |
| NM_001480.4:c.733-34T= MANE Select | NP_001471.2:n.733-34T= |