Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32048638G= , CM000668.2:g.32048638G= | GRCh38 |
| NC_000006.11:g.32016415G= , CM000668.1:g.32016415G= | GRCh37 |
| NC_000006.10:g.32124393G= | NCBI36 |
| NG_008337.2:g.65737C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.9770C= MANE Select | NP_001352205.1:p.Thr3257= |
| ENST00000644971.2:c.9770C= MANE Select | ENSP00000496448.1:p.Thr3257= |
| NM_001365276.1:c.9770C= | NP_001352205.1:p.Thr3257= |
| NM_019105.6:c.9764C= | NP_061978.6:p.Thr3255= |
| NM_019105.7:c.9764C= | NP_061978.6:p.Thr3255= |
| NM_019105.8:c.9764C= | NP_061978.6:p.Thr3255= |
| ENST00000375244.7:c.9770C= | ENSP00000364393.3:p.Thr3257= |
| ENST00000611016.2:c.2924C= | ENSP00000483409.1:p.Thr975= |
| ENST00000647633.1:c.10511C= | ENSP00000497649.1:p.Thr3504= |