Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90915808C>T , CM000672.2:g.90915808C>T | GRCh38 |
| NC_000010.10:g.92675565C>T , CM000672.1:g.92675565C>T | GRCh37 |
| NC_000010.9:g.92665545C>T | NCBI36 |
| NG_023227.1:g.10468G>A , LRG_379:g.10468G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014391.3:c.724G>A MANE Select | NP_055206.2:p.Glu242Lys |
| ENST00000371697.4:c.724G>A MANE Select | ENSP00000360762.3:p.Glu242Lys |
| NM_014391.2:c.724G>A , LRG_379t1:c.724G>A | NP_055206.2:p.Glu242Lys |
| ENST00000371697.3:c.724G>A | ENSP00000360762.3:p.Glu242Lys |