Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913124G= , CM000674.2:g.110913124G= | GRCh38 |
| NC_000012.11:g.111350928G= , CM000674.1:g.111350928G= | GRCh37 |
| NC_000012.10:g.109835311G= | NCBI36 |
| NG_007554.1:g.12454C= , LRG_393:g.12454C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.374C= MANE Select | NP_000423.2:p.Thr125= |
| ENST00000228841.15:c.374C= MANE Select | ENSP00000228841.8:p.Thr125= |
| NM_000432.3:c.374C= , LRG_393t1:c.374C= | NP_000423.2:p.Thr125= |
| ENST00000228841.12:c.374C= | ENSP00000228841.7:p.Thr125= |
| ENST00000548438.1:c.332C= | ENSP00000447154.1:p.Thr111= |
| ENST00000663220.1:c.317C= | ENSP00000499568.1:p.Thr106= |