Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5015156G= , CM000666.2:g.5015156G= | GRCh38 |
| NC_000004.11:g.5016883G= , CM000666.1:g.5016883G= | GRCh37 |
| NC_000004.10:g.5067784G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307746.9:c.406C= MANE Select | ENSP00000303550.4:p.Arg136= | |
| ENST00000307746.8:c.406C= | ENSP00000303550.4:p.Arg136= | |
| ENST00000506508.1:c.224C= | ||
| ENST00000509419.1:c.273C= | ||
| NM_018659.2:c.406C= | NP_061129.1:p.Arg136= | |
| XR_925085.1:n.149-4767G= | ||
| XR_925086.1:n.149-4767G= | ||
| XR_925087.1:n.149-4767G= | ||
| XM_017008299.1:c.*56C= | XP_016863788.1:n.*56C= | |
| NM_018659.3:c.406C= MANE Select | NP_061129.1:p.Arg136= |