Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960900C= , CM000677.2:g.97960900C= | GRCh38 |
| NC_000015.9:g.98504130C= , CM000677.1:g.98504130C= | GRCh37 |
| NC_000015.8:g.96305134C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.39C= MANE Select | ENSP00000268042.6:p.Ala13= | |
| ENST00000268042.6:c.39C= | ENSP00000268042.6:p.Ala13= | |
| NM_183376.2:c.39C= | NP_899232.2:p.Ala13= | |
| NM_183376.3:c.39C= MANE Select | NP_899232.2:p.Ala13= |