Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320671C= , CM000666.2:g.119320671C= | GRCh38 |
| NC_000004.11:g.120241826C= , CM000666.1:g.120241826C= | GRCh37 |
| NC_000004.10:g.120461274C= | NCBI36 |
| NG_011444.1:g.6491G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.239G= MANE Select | ENSP00000274024.3:p.Arg80= | |
| ENST00000274024.3:c.239G= | ENSP00000274024.3:p.Arg80= | |
| NM_000134.3:c.239G= | NP_000125.2:p.Arg80= | |
| NM_000134.4:c.239G= MANE Select | NP_000125.2:p.Arg80= |