Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.140504904C>A , CM000685.2:g.140504904C>A | GRCh38 |
| NC_000023.10:g.139587069C>A , CM000685.1:g.139587069C>A | GRCh37 |
| NC_000023.9:g.139414735C>A | NCBI36 |
| NG_009387.1:g.5157G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005634.3:c.157G>T MANE Select | NP_005625.2:p.Val53Leu |
| ENST00000370536.5:c.157G>T MANE Select | ENSP00000359567.2:p.Val53Leu |
| NM_005634.2:c.157G>T | NP_005625.2:p.Val53Leu |
| ENST00000370536.3:c.157G>T | ENSP00000359567.2:p.Val53Leu |