Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110914221G= , CM000674.2:g.110914221G= | GRCh38 |
| NC_000012.11:g.111352025G= , CM000674.1:g.111352025G= | GRCh37 |
| NC_000012.10:g.109836408G= | NCBI36 |
| NG_007554.1:g.11357C= , LRG_393:g.11357C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.239C= MANE Select | NP_000423.2:p.Thr80= |
| ENST00000228841.15:c.239C= MANE Select | ENSP00000228841.8:p.Thr80= |
| NM_000432.3:c.239C= , LRG_393t1:c.239C= | NP_000423.2:p.Thr80= |
| ENST00000228841.12:c.239C= | ENSP00000228841.7:p.Thr80= |
| ENST00000548438.1:c.197C= | ENSP00000447154.1:p.Thr66= |
| ENST00000549029.1:n.70C= | |
| ENST00000663220.1:c.182C= | ENSP00000499568.1:p.Thr61= |