Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583346C>A , CM000679.2:g.41583346C>A | GRCh38 |
| NC_000017.10:g.39739598C>A , CM000679.1:g.39739598C>A | GRCh37 |
| NC_000017.9:g.36993124C>A | NCBI36 |
| NG_008624.1:g.8550G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.1163G>T MANE Select | NP_000517.3:p.Arg388Leu |
| ENST00000167586.7:c.1163G>T MANE Select | ENSP00000167586.6:p.Arg388Leu |
| NM_000526.4:c.1163G>T | NP_000517.2:p.Arg388Leu |
| ENST00000167586.6:c.1163G>T | ENSP00000167586.6:p.Arg388Leu |
| ENST00000441550.2:n.110G>T | |
| ENST00000476662.1:n.613G>T |