Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154664C= , CM000668.2:g.3154664C= | GRCh38 |
| NC_000006.11:g.3154898C= , CM000668.1:g.3154898C= | GRCh37 |
| NC_000006.10:g.3099897C= | NCBI36 |
| NG_042223.1:g.7886G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.537G= MANE Select | ENSP00000369703.2:p.Val179= | |
| ENST00000679400.1:n.593G= | ||
| ENST00000679907.1:n.925G= | ||
| ENST00000680036.1:n.1319G= | ||
| ENST00000680967.1:n.1627G= | ||
| ENST00000333628.3:c.537G= | ENSP00000369703.2:p.Val179= | |
| ENST00000489942.1:n.732G= | ||
| NM_001069.2:c.537G= | NP_001060.1:p.Val179= | |
| NM_001310315.1:c.282G= | NP_001297244.1:p.Val94= | |
| NM_001069.3:c.537G= MANE Select | NP_001060.1:p.Val179= | |
| NM_001310315.2:c.282G= | NP_001297244.1:p.Val94= |