Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044032C= , CM000663.2:g.55044032C= | GRCh38 |
| NC_000001.10:g.55509705C= , CM000663.1:g.55509705C= | GRCh37 |
| NC_000001.9:g.55282293C= | NCBI36 |
| NG_009061.1:g.9486C= , LRG_275:g.9486C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.397C= | ENSP00000501161.2:p.Leu133= | |
| ENST00000710286.1:c.754C= | ENSP00000518176.1:p.Leu252= | |
| ENST00000673662.1:n.67C= | ||
| ENST00000673726.1:c.397C= | ENSP00000501004.1:p.Leu133= | |
| ENST00000673903.1:c.22C= | ENSP00000501257.1:p.Leu8= | |
| ENST00000302118.5:c.397C= MANE Select | ENSP00000303208.5:p.Leu133= | |
| NM_174936.3:c.397C= , LRG_275t1:c.397C= | NP_777596.2:p.Leu133= | |
| NR_110451.1:n.182+3629C= | ||
| NM_174936.4:c.397C= MANE Select | NP_777596.2:p.Leu133= | |
| NR_110451.2:n.182+3629C= |