Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72031544G>T , CM000674.2:g.72031544G>T | GRCh38 |
| NC_000012.11:g.72425324G>T , CM000674.1:g.72425324G>T | GRCh37 |
| NC_000012.10:g.70711591G>T | NCBI36 |
| NG_008279.1:g.97699G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1322G>T MANE Select | NP_775489.2:p.Arg441Leu |
| ENST00000333850.4:c.1322G>T MANE Select | ENSP00000329093.3:p.Arg441Leu |
| NM_173353.3:c.1322G>T | NP_775489.2:p.Arg441Leu |
| ENST00000333850.3:c.1322G>T | ENSP00000329093.3:p.Arg441Leu |
| ENST00000547278.1:n.78+153G>T | |
| ENST00000547348.5:n.100+153G>T | |
| ENST00000550403.5:n.120+153G>T | |
| ENST00000551074.5:n.93+153G>T | |
| XM_011537899.1:c.728G>T | XP_011536201.1:p.Arg243Leu |