Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2100894C>T , CM000670.2:g.2100894C>T | GRCh38 |
| NC_000008.9:g.2036091C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003970.4:c.2459C>T MANE Select | NP_003961.3:p.Thr820Met |
| ENST00000262113.9:c.2459C>T MANE Select | ENSP00000262113.4:p.Thr820Met |
| NM_003970.3:c.2459C>T | NP_003961.3:p.Thr820Met |
| ENST00000262113.8:c.2459C>T | ENSP00000262113.4:p.Thr820Met |
| ENST00000518203.5:n.75C>T | |
| ENST00000519372.5:n.213C>T | |
| ENST00000523438.1:c.734C>T | ENSP00000428396.1:p.Thr245Met |
| XM_006716237.1:c.2459C>T | XP_006716300.1:p.Thr820Met |