Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256008G= , CM000676.2:g.24256008G= | GRCh38 |
| NC_000014.8:g.24725214G= , CM000676.1:g.24725214G= | GRCh37 |
| NC_000014.7:g.23795054G= | NCBI36 |
| NG_007150.1:g.12159C= | |
| NG_007150.2:g.12159C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1472C= MANE Select | ENSP00000206765.6:p.Thr491= | |
| ENST00000206765.10:c.1472C= | ENSP00000206765.6:p.Thr491= | |
| ENST00000544573.5:c.146C= | ENSP00000439446.1:p.Thr49= | |
| ENST00000559136.1:c.545C= | ENSP00000453337.1:p.Thr182= | |
| NM_000359.2:c.1472C= | NP_000350.1:p.Thr491= | |
| NM_000359.3:c.1472C= MANE Select | NP_000350.1:p.Thr491= |