Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121626982C= , CM000674.2:g.121626982C= | GRCh38 |
| NC_000012.10:g.120549271C= | NCBI36 |
| NG_007500.1:g.5408C= , LRG_93:g.5408C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+49C= | ||
| ENST00000617316.2:c.235C= | ENSP00000482568.2:p.Leu79= | |
| ENST00000646827.1:n.433C= | ||
| ENST00000611718.1:c.46C= | ENSP00000477953.1:p.Leu16= | |
| ENST00000616379.1:c.235C= | ENSP00000480616.1:p.Leu79= | |
| ENST00000617316.1:c.46C= | ENSP00000482568.1:p.Leu16= | |
| NM_032790.3:c.235C= , LRG_93t1:c.235C= | NP_116179.2:p.Leu79= |