Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832812C= , CM000673.2:g.116832812C= | GRCh38 |
| NC_000011.9:g.116703528C= , CM000673.1:g.116703528C= | GRCh37 |
| NC_000011.8:g.116208738C= | NCBI36 |
| NG_008949.1:g.7905C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.228C= MANE Select | ENSP00000227667.2:p.Thr76= | |
| ENST00000227667.7:c.228C= | ENSP00000227667.2:p.Thr76= | |
| ENST00000375345.3:c.282C= | ENSP00000364494.1:p.Thr94= | |
| ENST00000630701.1:c.282C= | ENSP00000486182.1:p.Thr94= | |
| NM_000040.1:c.228C= | NP_000031.1:p.Thr76= | |
| NM_000040.2:c.228C= | NP_000031.1:p.Thr76= | |
| NM_000040.3:c.228C= MANE Select | NP_000031.1:p.Thr76= |