Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372202C>A , CM000680.2:g.60372202C>A | GRCh38 |
| NC_000018.9:g.58039435C>A , CM000680.1:g.58039435C>A | GRCh37 |
| NC_000018.8:g.56190415C>A | NCBI36 |
| NG_016441.1:g.5567G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005912.3:c.148G>T MANE Select | NP_005903.2:p.Val50Leu |
| ENST00000299766.5:c.148G>T MANE Select | ENSP00000299766.3:p.Val50Leu |
| NM_005912.2:c.148G>T | NP_005903.2:p.Val50Leu |
| ENST00000299766.4:c.148G>T | ENSP00000299766.3:p.Val50Leu |