Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24255457C>A , CM000676.2:g.24255457C>A | GRCh38 |
| NC_000014.8:g.24724663C>A , CM000676.1:g.24724663C>A | GRCh37 |
| NC_000014.7:g.23794503C>A | NCBI36 |
| NG_007150.1:g.12710G>T | |
| NG_007150.2:g.12710G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.1552G>T MANE Select | NP_000350.1:p.Val518Leu |
| ENST00000206765.11:c.1552G>T MANE Select | ENSP00000206765.6:p.Val518Leu |
| NM_000359.2:c.1552G>T | NP_000350.1:p.Val518Leu |
| ENST00000206765.10:c.1552G>T | ENSP00000206765.6:p.Val518Leu |
| ENST00000544573.5:c.226G>T | ENSP00000439446.1:p.Val76Leu |
| ENST00000559136.1:c.625G>T | ENSP00000453337.1:p.Val209Leu |