Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585142C>A , CM000673.2:g.67585142C>A | GRCh38 |
| NC_000011.9:g.67352613C>A , CM000673.1:g.67352613C>A | GRCh37 |
| NC_000011.8:g.67109189C>A | NCBI36 |
| NG_012075.1:g.6548C>A , LRG_723:g.6548C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.237C>A | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.10:c.237C>A MANE Select | ENSP00000381607.3:p.Leu79= | |
| ENST00000646888.1:c.130C>A | ENSP00000494477.1:p.Leu44Ile | |
| ENST00000398603.5:c.237C>A | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.7:c.237C>A | ENSP00000381607.3:p.Leu79= | |
| ENST00000467591.1:n.348C>A | ||
| ENST00000494593.1:n.1032C>A | ||
| ENST00000498765.5:c.300C>A | ||
| NM_000852.3:c.237C>A , LRG_723t1:c.237C>A | NP_000843.1:p.Leu79= | |
| NM_000852.4:c.237C>A MANE Select | NP_000843.1:p.Leu79= |