Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7408392C>T , CM000679.2:g.7408392C>T | GRCh38 |
| NC_000017.10:g.7311711C>T , CM000679.1:g.7311711C>T | GRCh37 |
| NC_000017.9:g.7252435C>T | NCBI36 |
| NG_054929.1:g.740G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020795.4:c.137C>T MANE Select | NP_065846.1:p.Thr46Met |
| ENST00000302926.7:c.137C>T MANE Select | ENSP00000305288.2:p.Thr46Met |
| NM_020795.3:c.137C>T | NP_065846.1:p.Thr46Met |
| ENST00000302926.6:c.137C>T | ENSP00000305288.2:p.Thr46Met |
| ENST00000572893.1:n.256-68C>T | |
| ENST00000575301.5:c.137C>T | ENSP00000461168.1:p.Thr46Met |
| XM_005256744.2:c.137C>T | XP_005256801.1:p.Thr46Met |
| XM_005256744.4:c.137C>T | XP_005256801.1:p.Thr46Met |
| XM_017024897.1:c.-81+2782C>T | XP_016880386.1:n.-81+2782C>T |