Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755010G= , CM000677.2:g.74755010G= | GRCh38 |
| NC_000015.9:g.75047351G= , CM000677.1:g.75047351G= | GRCh37 |
| NC_000015.8:g.72834404G= | NCBI36 |
| NG_008431.1:g.37469G= | |
| NG_008431.2:g.37469G= | |
| NG_061543.1:g.11166G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1473G= MANE Select | ENSP00000342007.4:p.Leu491= | |
| ENST00000343932.4:c.1473G= | ENSP00000342007.4:p.Leu491= | |
| NM_000761.4:c.1473G= | NP_000752.2:p.Leu491= | |
| NM_000761.5:c.1473G= MANE Select | NP_000752.2:p.Leu491= |