Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988871C= , CM000672.2:g.94988871C= | GRCh38 |
| NC_000010.10:g.96748628C= , CM000672.1:g.96748628C= | GRCh37 |
| NC_000010.9:g.96738618C= | NCBI36 |
| NG_008385.1:g.55214C= | |
| NG_008385.2:g.55714C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1316C= MANE Select | ENSP00000260682.6:p.Ala439= | |
| ENST00000643112.1:c.*325C= | ENSP00000496202.1:n.*325C= | |
| ENST00000260682.6:c.1316C= | ENSP00000260682.6:p.Ala439= | |
| NM_000771.3:c.1316C= | NP_000762.2:p.Ala439= | |
| NM_000771.4:c.1316C= MANE Select | NP_000762.2:p.Ala439= |