Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814937G>A , CM000664.2:g.218814937G>A | GRCh38 |
| NC_000002.11:g.219679660G>A , CM000664.1:g.219679660G>A | GRCh37 |
| NC_000002.10:g.219387904G>A | NCBI36 |
| NG_007959.1:g.38189G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.1503G>A MANE Select | NP_000775.1:p.Leu501= |
| ENST00000258415.9:c.1503G>A MANE Select | ENSP00000258415.4:p.Leu501= |
| NM_000784.3:c.1503G>A | NP_000775.1:p.Leu501= |
| ENST00000258415.8:c.1503G>A | ENSP00000258415.4:p.Leu501= |
| ENST00000494263.5:n.2215G>A | |
| XM_017003488.2:c.1083G>A | XP_016858977.1:p.Leu361= |