Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184490C>A , CM000679.2:g.42184490C>A | GRCh38 |
| NC_000017.10:g.40336508C>A , CM000679.1:g.40336508C>A | GRCh37 |
| NC_000017.9:g.37590034C>A | NCBI36 |
| NG_011448.1:g.5963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.60G>T MANE Select | ENSP00000293330.1:p.Leu20= | |
| NM_001524.1:c.60G>T MANE Select | NP_001515.1:p.Leu20= |