Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583253A>T , CM000679.2:g.41583253A>T | GRCh38 |
| NC_000017.10:g.39739505A>T , CM000679.1:g.39739505A>T | GRCh37 |
| NC_000017.9:g.36993031A>T | NCBI36 |
| NG_008624.1:g.8643T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.1256T>A MANE Select | NP_000517.3:p.Leu419Gln |
| ENST00000167586.7:c.1256T>A MANE Select | ENSP00000167586.6:p.Leu419Gln |
| NM_000526.4:c.1256T>A | NP_000517.2:p.Leu419Gln |
| ENST00000167586.6:c.1256T>A | ENSP00000167586.6:p.Leu419Gln |
| ENST00000441550.2:n.203T>A | |
| ENST00000476662.1:n.706T>A |