Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31475994A= , CM000680.2:g.31475994A= | GRCh38 |
| NC_000018.9:g.29055957A= , CM000680.1:g.29055957A= | GRCh37 |
| NC_000018.8:g.27309955A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001944.3:c.2734A= MANE Select | NP_001935.2:p.Thr912= |
| ENST00000257189.5:c.2734A= MANE Select | ENSP00000257189.4:p.Thr912= |
| NM_001944.2:c.2734A= | NP_001935.2:p.Thr912= |
| ENST00000257189.4:c.2734A= | ENSP00000257189.4:p.Thr912= |
| XM_011525850.1:c.2731A= | XP_011524152.1:p.Thr911= |
| XM_011525850.2:c.2731A= | XP_011524152.1:p.Thr911= |