Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911514C>A , CM000674.2:g.4911514C>A | GRCh38 |
| NC_000012.11:g.5020680C>A , CM000674.1:g.5020680C>A | GRCh37 |
| NC_000012.10:g.4890941C>A | NCBI36 |
| NG_011815.1:g.6608C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.136C>A MANE Select | NP_000208.2:p.Leu46Met |
| ENST00000382545.5:c.136C>A MANE Select | ENSP00000371985.3:p.Leu46Met |
| NM_000217.2:c.136C>A | NP_000208.2:p.Leu46Met |
| ENST00000382545.3:c.136C>A | ENSP00000371985.3:p.Leu46Met |
| ENST00000541095.1:n.105+1042C>A | |
| ENST00000543874.2:n.96+1042C>A | |
| ENST00000543874.3:n.105+1042C>A |