Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32068586T>C , CM000668.2:g.32068586T>C | GRCh38 |
| NC_000006.11:g.32036363T>C , CM000668.1:g.32036363T>C | GRCh37 |
| NC_000006.10:g.32144341T>C | NCBI36 |
| NG_008337.2:g.45789A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.6024A>G MANE Select | NP_001352205.1:p.Thr2008= |
| ENST00000644971.2:c.6024A>G MANE Select | ENSP00000496448.1:p.Thr2008= |
| NM_001365276.1:c.6024A>G | NP_001352205.1:p.Thr2008= |
| NM_019105.6:c.6024A>G | NP_061978.6:p.Thr2008= |
| NM_019105.7:c.6024A>G | NP_061978.6:p.Thr2008= |
| NM_019105.8:c.6024A>G | NP_061978.6:p.Thr2008= |
| ENST00000375244.7:c.6024A>G | ENSP00000364393.3:p.Thr2008= |
| ENST00000613214.4:c.6285A>G | ENSP00000480067.1:n.6285A>G |
| ENST00000647633.1:c.6765A>G | ENSP00000497649.1:p.Thr2255= |