Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154807C= , CM000668.2:g.3154807C= | GRCh38 |
| NC_000006.11:g.3155041C= , CM000668.1:g.3155041C= | GRCh37 |
| NC_000006.10:g.3100040C= | NCBI36 |
| NG_042223.1:g.7743G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.394G= MANE Select | ENSP00000369703.2:p.Gly132= | |
| ENST00000679400.1:n.450G= | ||
| ENST00000679907.1:n.782G= | ||
| ENST00000680036.1:n.1176G= | ||
| ENST00000680967.1:n.1484G= | ||
| ENST00000333628.3:c.394G= | ENSP00000369703.2:p.Gly132= | |
| ENST00000489942.1:n.589G= | ||
| NM_001069.2:c.394G= | NP_001060.1:p.Gly132= | |
| NM_001310315.1:c.139G= | NP_001297244.1:p.Gly47= | |
| NM_001069.3:c.394G= MANE Select | NP_001060.1:p.Gly132= | |
| NM_001310315.2:c.139G= | NP_001297244.1:p.Gly47= |