Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259082G= , CM000676.2:g.24259082G= | GRCh38 |
| NC_000014.8:g.24728288G= , CM000676.1:g.24728288G= | GRCh37 |
| NC_000014.7:g.23798128G= | NCBI36 |
| NG_007150.1:g.9085C= | |
| NG_007150.2:g.9085C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1152C= MANE Select | ENSP00000206765.6:p.Thr384= | |
| ENST00000206765.10:c.1152C= | ENSP00000206765.6:p.Thr384= | |
| ENST00000544573.5:c.-28-694C= | ENSP00000439446.1:n.-28-694C= | |
| ENST00000559136.1:c.225C= | ENSP00000453337.1:p.Thr75= | |
| NM_000359.2:c.1152C= | NP_000350.1:p.Thr384= | |
| NM_000359.3:c.1152C= MANE Select | NP_000350.1:p.Thr384= |