Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154375G= , CM000668.2:g.3154375G= | GRCh38 |
| NC_000006.11:g.3154609G= , CM000668.1:g.3154609G= | GRCh37 |
| NC_000006.10:g.3099608G= | NCBI36 |
| NG_042223.1:g.8175C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.826C= MANE Select | ENSP00000369703.2:p.Arg276= | |
| ENST00000679400.1:n.882C= | ||
| ENST00000679907.1:n.1214C= | ||
| ENST00000680036.1:n.1608C= | ||
| ENST00000680967.1:n.1916C= | ||
| ENST00000333628.3:c.826C= | ENSP00000369703.2:p.Arg276= | |
| NM_001069.2:c.826C= | NP_001060.1:p.Arg276= | |
| NM_001310315.1:c.571C= | NP_001297244.1:p.Arg191= | |
| NM_001069.3:c.826C= MANE Select | NP_001060.1:p.Arg276= | |
| NM_001310315.2:c.571C= | NP_001297244.1:p.Arg191= |