Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154266G>A , CM000668.2:g.3154266G>A | GRCh38 |
| NC_000006.11:g.3154500G>A , CM000668.1:g.3154500G>A | GRCh37 |
| NC_000006.10:g.3099499G>A | NCBI36 |
| NG_042223.1:g.8284C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.935C>T MANE Select | NP_001060.1:p.Thr312Met |
| ENST00000333628.4:c.935C>T MANE Select | ENSP00000369703.2:p.Thr312Met |
| NM_001069.2:c.935C>T | NP_001060.1:p.Thr312Met |
| NM_001310315.1:c.680C>T | NP_001297244.1:p.Thr227Met |
| NM_001310315.2:c.680C>T | NP_001297244.1:p.Thr227Met |
| ENST00000333628.3:c.935C>T | ENSP00000369703.2:p.Thr312Met |
| ENST00000679400.1:n.991C>T | |
| ENST00000679907.1:n.1323C>T | |
| ENST00000680036.1:n.1717C>T | |
| ENST00000680967.1:n.2025C>T |