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