Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950955T= , CM000674.2:g.49950955T= | GRCh38 |
| NC_000012.11:g.50344738T= , CM000674.1:g.50344738T= | GRCh37 |
| NC_000012.10:g.48631005T= | NCBI36 |
| NG_008913.1:g.5215T= , LRG_717:g.5215T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.125T= MANE Select | ENSP00000199280.3:p.Leu42= | |
| ENST00000199280.3:c.125T= | ENSP00000199280.3:p.Leu42= | |
| ENST00000550862.1:c.125T= | ENSP00000450022.1:p.Leu42= | |
| ENST00000551526.5:c.125T= | ENSP00000447148.1:p.Leu42= | |
| NM_000486.5:c.125T= , LRG_717t1:c.125T= | NP_000477.1:p.Leu42= | |
| NM_000486.6:c.125T= MANE Select | NP_000477.1:p.Leu42= |