Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225513C= , CM000668.2:g.3225513C= | GRCh38 |
| NC_000006.11:g.3225747C= , CM000668.1:g.3225747C= | GRCh37 |
| NC_000006.10:g.3170746C= | NCBI36 |
| NG_016715.1:g.7222G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.576G= MANE Select | ENSP00000259818.6:p.Leu192= | |
| ENST00000680070.1:n.1506G= | ||
| ENST00000681707.1:n.1403G= | ||
| ENST00000681757.1:n.881G= | ||
| ENST00000259818.7:c.576G= | ENSP00000259818.6:p.Leu192= | |
| ENST00000473006.1:n.693G= | ||
| NM_178012.4:c.576G= | NP_821080.1:p.Leu192= | |
| XM_011514571.1:c.360G= | XP_011512873.1:p.Leu120= | |
| NM_178012.5:c.576G= MANE Select | NP_821080.1:p.Leu192= |