Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988927C= , CM000672.2:g.94988927C= | GRCh38 |
| NC_000010.10:g.96748684C= , CM000672.1:g.96748684C= | GRCh37 |
| NC_000010.9:g.96738674C= | NCBI36 |
| NG_008385.1:g.55270C= | |
| NG_008385.2:g.55770C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1372C= MANE Select | ENSP00000260682.6:p.Leu458= | |
| ENST00000643112.1:c.*381C= | ENSP00000496202.1:n.*381C= | |
| ENST00000260682.6:c.1372C= | ENSP00000260682.6:p.Leu458= | |
| NM_000771.3:c.1372C= | NP_000762.2:p.Leu458= | |
| NM_000771.4:c.1372C= MANE Select | NP_000762.2:p.Leu458= |