Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154458G= , CM000668.2:g.3154458G= | GRCh38 |
| NC_000006.11:g.3154692G= , CM000668.1:g.3154692G= | GRCh37 |
| NC_000006.10:g.3099691G= | NCBI36 |
| NG_042223.1:g.8092C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.743C= MANE Select | NP_001060.1:p.Ala248= |
| ENST00000333628.4:c.743C= MANE Select | ENSP00000369703.2:p.Ala248= |
| NM_001069.2:c.743C= | NP_001060.1:p.Ala248= |
| NM_001310315.1:c.488C= | NP_001297244.1:p.Ala163= |
| NM_001310315.2:c.488C= | NP_001297244.1:p.Ala163= |
| ENST00000333628.3:c.743C= | ENSP00000369703.2:p.Ala248= |
| ENST00000679400.1:n.799C= | |
| ENST00000679907.1:n.1131C= | |
| ENST00000680036.1:n.1525C= | |
| ENST00000680967.1:n.1833C= |