Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749907C= , CM000677.2:g.74749907C= | GRCh38 |
| NC_000015.9:g.75042248C= , CM000677.1:g.75042248C= | GRCh37 |
| NC_000015.8:g.72829301C= | NCBI36 |
| NG_008431.1:g.32366C= | |
| NG_008431.2:g.32366C= | |
| NG_061543.1:g.6063C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.169C= MANE Select | ENSP00000342007.4:p.Leu57= | |
| ENST00000343932.4:c.169C= | ENSP00000342007.4:p.Leu57= | |
| NM_000761.4:c.169C= | NP_000752.2:p.Leu57= | |
| NM_000761.5:c.169C= MANE Select | NP_000752.2:p.Leu57= |