Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55046549C= , CM000663.2:g.55046549C= | GRCh38 |
| NC_000001.10:g.55512222C= , CM000663.1:g.55512222C= | GRCh37 |
| NC_000001.9:g.55284810C= | NCBI36 |
| NG_009061.1:g.12003C= , LRG_275:g.12003C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.426C= | ENSP00000501161.2:p.Tyr142= | |
| ENST00000710286.1:c.783C= | ENSP00000518176.1:p.Tyr261= | |
| ENST00000673662.1:n.96C= | ||
| ENST00000673726.1:c.426C= | ENSP00000501004.1:p.Tyr142= | |
| ENST00000673903.1:c.51C= | ENSP00000501257.1:p.Tyr17= | |
| ENST00000302118.5:c.426C= MANE Select | ENSP00000303208.5:p.Tyr142= | |
| NM_174936.3:c.426C= , LRG_275t1:c.426C= | NP_777596.2:p.Tyr142= | |
| NR_110451.1:n.183-5729C= | ||
| NM_174936.4:c.426C= MANE Select | NP_777596.2:p.Tyr142= | |
| NR_110451.2:n.183-5729C= |