Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154745G>T , CM000681.2:g.55154745G>T | GRCh38 |
| NC_000019.9:g.55666113G>T , CM000681.1:g.55666113G>T | GRCh37 |
| NC_000019.8:g.60357925G>T | NCBI36 |
| NG_007866.2:g.7988C>A , LRG_432:g.7988C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.368C>A MANE Select | NP_000354.4:p.Thr123Lys |
| ENST00000344887.10:c.368C>A MANE Select | ENSP00000341838.5:p.Thr123Lys |
| NM_000363.4:c.368C>A , LRG_432t1:c.368C>A | NP_000354.4:p.Thr123Lys |
| ENST00000344887.9:c.368C>A | ENSP00000341838.5:p.Thr123Lys |
| ENST00000585806.5:n.367C>A | |
| ENST00000586669.5:n.376C>A | |
| ENST00000587176.5:n.552C>A | |
| ENST00000588882.1:c.293C>A | ENSP00000466729.1:p.Thr98Lys |
| ENST00000665070.1:c.368C>A | ENSP00000499482.1:p.Thr123Lys |