Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225753C= , CM000668.2:g.3225753C= | GRCh38 |
| NC_000006.11:g.3225987C= , CM000668.1:g.3225987C= | GRCh37 |
| NC_000006.10:g.3170986C= | NCBI36 |
| NG_016715.1:g.6982G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.336G= MANE Select | ENSP00000259818.6:p.Leu112= | |
| ENST00000680070.1:n.1266G= | ||
| ENST00000681707.1:n.1163G= | ||
| ENST00000681757.1:n.641G= | ||
| ENST00000259818.7:c.336G= | ENSP00000259818.6:p.Leu112= | |
| ENST00000473006.1:n.453G= | ||
| NM_178012.4:c.336G= | NP_821080.1:p.Leu112= | |
| XM_011514571.1:c.120G= | XP_011512873.1:p.Leu40= | |
| NM_178012.5:c.336G= MANE Select | NP_821080.1:p.Leu112= |