Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135892476G= , CM000667.2:g.135892476G= | GRCh38 |
| NC_000005.9:g.135228165G= , CM000667.1:g.135228165G= | GRCh37 |
| NC_000005.8:g.135256064G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274520.2:c.350C= MANE Select | ENSP00000274520.1:p.Thr117= | |
| ENST00000274520.1:c.350C= | ENSP00000274520.1:p.Thr117= | |
| NM_000590.1:c.350C= | NP_000581.1:p.Thr117= | |
| NM_000590.2:c.350C= MANE Select | NP_000581.1:p.Thr117= |