Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043892C= , CM000663.2:g.55043892C= | GRCh38 |
| NC_000001.10:g.55509565C= , CM000663.1:g.55509565C= | GRCh37 |
| NC_000001.9:g.55282153C= | NCBI36 |
| NG_009061.1:g.9346C= , LRG_275:g.9346C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.257C= MANE Select | NP_777596.2:p.Thr86= |
| ENST00000302118.5:c.257C= MANE Select | ENSP00000303208.5:p.Thr86= |
| NM_174936.3:c.257C= , LRG_275t1:c.257C= | NP_777596.2:p.Thr86= |
| NR_110451.1:n.182+3489C= | |
| NR_110451.2:n.182+3489C= | |
| ENST00000673726.1:c.257C= | ENSP00000501004.1:p.Thr86= |
| ENST00000673903.1:c.-119C= | ENSP00000501257.1:n.-119C= |
| ENST00000673913.2:c.257C= | ENSP00000501161.2:p.Thr86= |
| ENST00000710286.1:c.614C= | ENSP00000518176.1:p.Thr205= |