Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154766G= , CM000668.2:g.3154766G= | GRCh38 |
| NC_000006.11:g.3155000G= , CM000668.1:g.3155000G= | GRCh37 |
| NC_000006.10:g.3099999G= | NCBI36 |
| NG_042223.1:g.7784C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.435C= MANE Select | ENSP00000369703.2:p.Ser145= | |
| ENST00000679400.1:n.491C= | ||
| ENST00000679907.1:n.823C= | ||
| ENST00000680036.1:n.1217C= | ||
| ENST00000680967.1:n.1525C= | ||
| ENST00000333628.3:c.435C= | ENSP00000369703.2:p.Ser145= | |
| ENST00000489942.1:n.630C= | ||
| NM_001069.2:c.435C= | NP_001060.1:p.Ser145= | |
| NM_001310315.1:c.180C= | NP_001297244.1:p.Ser60= | |
| NM_001069.3:c.435C= MANE Select | NP_001060.1:p.Ser145= | |
| NM_001310315.2:c.180C= | NP_001297244.1:p.Ser60= |