Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583261G>A , CM000679.2:g.41583261G>A | GRCh38 |
| NC_000017.10:g.39739513G>A , CM000679.1:g.39739513G>A | GRCh37 |
| NC_000017.9:g.36993039G>A | NCBI36 |
| NG_008624.1:g.8635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1248C>T MANE Select | ENSP00000167586.6:p.Arg416= | |
| ENST00000167586.6:c.1248C>T | ENSP00000167586.6:p.Arg416= | |
| ENST00000441550.2:n.195C>T | ||
| ENST00000476662.1:n.698C>T | ||
| NM_000526.4:c.1248C>T | NP_000517.2:p.Arg416= | |
| NM_000526.5:c.1248C>T MANE Select | NP_000517.3:p.Arg416= |