Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38349567A= , CM000682.2:g.38349567A= | GRCh38 |
| NG_034239.1:g.8157A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004139.5:c.144A= MANE Select | NP_004130.2:p.Leu48= |
| ENST00000217407.3:c.144A= MANE Select | ENSP00000217407.2:p.Leu48= |
| NM_004139.4:c.144A= | NP_004130.2:p.Leu48= |
| ENST00000217407.2:c.144A= | ENSP00000217407.2:p.Leu48= |