Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764515G= , CM000674.2:g.57764515G= | GRCh38 |
| NC_000012.11:g.58158298G= , CM000674.1:g.58158298G= | GRCh37 |
| NC_000012.10:g.56444565G= | NCBI36 |
| NG_007076.1:g.7679C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1080C= | ENSP00000518840.1:p.Leu360= | |
| ENST00000713545.1:c.*4C= | ENSP00000518841.1:n.*4C= | |
| ENST00000228606.9:c.999C= MANE Select | ENSP00000228606.4:p.Leu333= | |
| ENST00000228606.8:c.999C= | ENSP00000228606.4:p.Leu333= | |
| ENST00000546567.5:c.294C= | ENSP00000449472.1:p.Leu98= | |
| ENST00000547344.5:n.1138C= | ||
| NM_000785.3:c.999C= | NP_000776.1:p.Leu333= | |
| NM_000785.4:c.999C= MANE Select | NP_000776.1:p.Leu333= |