Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586524C= , CM000673.2:g.67586524C= | GRCh38 |
| NC_000011.9:g.67353995C= , CM000673.1:g.67353995C= | GRCh37 |
| NC_000011.8:g.67110571C= | NCBI36 |
| NG_012075.1:g.7930C= , LRG_723:g.7930C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.472C= | ENSP00000381604.1:p.Leu158= | |
| ENST00000398606.10:c.580C= MANE Select | ENSP00000381607.3:p.Leu194= | |
| ENST00000398603.5:c.472C= | ENSP00000381604.1:p.Leu158= | |
| ENST00000398606.7:c.580C= | ENSP00000381607.3:p.Leu194= | |
| ENST00000467591.1:n.691C= | ||
| ENST00000494593.1:n.1552C= | ||
| ENST00000498765.5:c.643C= | ||
| NM_000852.3:c.580C= , LRG_723t1:c.580C= | NP_000843.1:p.Leu194= | |
| NM_000852.4:c.580C= MANE Select | NP_000843.1:p.Leu194= |