Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40212643C= , CM000677.2:g.40212643C= | GRCh38 |
| NC_000015.9:g.40504844C= , CM000677.1:g.40504844C= | GRCh37 |
| NC_000015.8:g.38292136C= | NCBI36 |
| NG_016338.1:g.56635C= , LRG_489:g.56635C= | |
| NG_033169.1:g.216C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2530C= MANE Select | NP_001202.5:p.Leu844= |
| ENST00000287598.11:c.2530C= MANE Select | ENSP00000287598.7:p.Leu844= |
| NM_001211.5:c.2530C= , LRG_489t1:c.2530C= | NP_001202.4:p.Leu844= |
| ENST00000287598.10:c.2530C= | ENSP00000287598.6:p.Leu844= |
| ENST00000412359.7:c.2572C= | ENSP00000398470.3:p.Leu858= |
| XR_001751506.1:n.217+26842G= |