Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72031544G= , CM000674.2:g.72031544G= | GRCh38 |
| NC_000012.11:g.72425324G= , CM000674.1:g.72425324G= | GRCh37 |
| NC_000012.10:g.70711591G= | NCBI36 |
| NG_008279.1:g.97699G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1322G= MANE Select | NP_775489.2:p.Arg441= |
| ENST00000333850.4:c.1322G= MANE Select | ENSP00000329093.3:p.Arg441= |
| NM_173353.3:c.1322G= | NP_775489.2:p.Arg441= |
| ENST00000333850.3:c.1322G= | ENSP00000329093.3:p.Arg441= |
| ENST00000547278.1:n.78+153G= | |
| ENST00000547348.5:n.100+153G= | |
| ENST00000550403.5:n.120+153G= | |
| ENST00000551074.5:n.93+153G= | |
| XM_011537899.1:c.728G= | XP_011536201.1:p.Arg243= |