Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764538G= , CM000674.2:g.57764538G= | GRCh38 |
| NC_000012.11:g.58158321G= , CM000674.1:g.58158321G= | GRCh37 |
| NC_000012.10:g.56444588G= | NCBI36 |
| NG_007076.1:g.7656C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1057C= | ENSP00000518840.1:p.Leu353= | |
| ENST00000713545.1:c.1034C= | ENSP00000518841.1:p.Ala345= | |
| ENST00000228606.9:c.976C= MANE Select | ENSP00000228606.4:p.Leu326= | |
| ENST00000228606.8:c.976C= | ENSP00000228606.4:p.Leu326= | |
| ENST00000546567.5:c.271C= | ENSP00000449472.1:p.Leu91= | |
| ENST00000547344.5:n.1115C= | ||
| NM_000785.3:c.976C= | NP_000776.1:p.Leu326= | |
| NM_000785.4:c.976C= MANE Select | NP_000776.1:p.Leu326= |