Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816582G= , CM000681.2:g.4816582G= | GRCh38 |
| NC_000019.9:g.4816594G= , CM000681.1:g.4816594G= | GRCh37 |
| NC_000019.8:g.4767594G= | NCBI36 |
| NG_031998.1:g.20161C= , LRG_358:g.20161C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1796C= MANE Select | ENSP00000248244.4:p.Thr599= | |
| ENST00000248244.5:c.1796C= | ENSP00000248244.4:p.Thr599= | |
| ENST00000621756.1:c.1379C= | ENSP00000479467.1:p.Thr460= | |
| NM_182919.3:c.1796C= , LRG_358t1:c.1796C= | NP_891549.1:p.Thr599= | |
| NM_001385678.1:c.1754C= | NP_001372607.1:p.Thr585= | |
| NM_001385679.1:c.1661C= | NP_001372608.1:p.Thr554= | |
| NM_001385680.1:c.1154C= | NP_001372609.1:p.Thr385= | |
| NM_182919.4:c.1796C= MANE Select | NP_891549.1:p.Thr599= |