Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71458501G= , CM000673.2:g.71458501G= | GRCh38 |
| NC_000011.9:g.71169547G= , CM000673.1:g.71169547G= | GRCh37 |
| NC_000011.8:g.70847195G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018161.5:c.220G= MANE Select | NP_060631.2:p.Val74= |
| ENST00000319023.7:c.220G= MANE Select | ENSP00000326424.2:p.Val74= |
| NM_018161.4:c.220G= | NP_060631.2:p.Val74= |
| ENST00000319023.6:c.220G= | ENSP00000326424.2:p.Val74= |
| ENST00000524949.5:n.286G= | |
| ENST00000525200.5:c.120G= | |
| ENST00000525245.1:n.161G= | |
| ENST00000527538.5:n.276G= | |
| ENST00000528509.5:c.220G= | ENSP00000433472.1:p.Val74= |
| ENST00000529120.5:c.220G= | ENSP00000437220.1:p.Val74= |
| ENST00000533769.5:n.286G= | |
| ENST00000534634.5:n.408G= |