Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749786G= , CM000677.2:g.74749786G= | GRCh38 |
| NC_000015.9:g.75042127G= , CM000677.1:g.75042127G= | GRCh37 |
| NC_000015.8:g.72829180G= | NCBI36 |
| NG_008431.1:g.32245G= | |
| NG_008431.2:g.32245G= | |
| NG_061543.1:g.5942G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.48G= MANE Select | ENSP00000342007.4:p.Leu16= | |
| ENST00000343932.4:c.48G= | ENSP00000342007.4:p.Leu16= | |
| NM_000761.4:c.48G= | NP_000752.2:p.Leu16= | |
| NM_000761.5:c.48G= MANE Select | NP_000752.2:p.Leu16= |