Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585142C>T , CM000673.2:g.67585142C>T | GRCh38 |
| NC_000011.9:g.67352613C>T , CM000673.1:g.67352613C>T | GRCh37 |
| NC_000011.8:g.67109189C>T | NCBI36 |
| NG_012075.1:g.6548C>T , LRG_723:g.6548C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.237C>T | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.10:c.237C>T MANE Select | ENSP00000381607.3:p.Leu79= | |
| ENST00000646888.1:c.130C>T | ENSP00000494477.1:p.Leu44= | |
| ENST00000398603.5:c.237C>T | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.7:c.237C>T | ENSP00000381607.3:p.Leu79= | |
| ENST00000467591.1:n.348C>T | ||
| ENST00000494593.1:n.1032C>T | ||
| ENST00000498765.5:c.300C>T | ||
| NM_000852.3:c.237C>T , LRG_723t1:c.237C>T | NP_000843.1:p.Leu79= | |
| NM_000852.4:c.237C>T MANE Select | NP_000843.1:p.Leu79= |