Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40202609G= , CM000677.2:g.40202609G= | GRCh38 |
| NC_000015.9:g.40494810G= , CM000677.1:g.40494810G= | GRCh37 |
| NC_000015.8:g.38282102G= | NCBI36 |
| NG_016338.1:g.46601G= , LRG_489:g.46601G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.1649G= MANE Select | NP_001202.5:p.Arg550= |
| ENST00000287598.11:c.1649G= MANE Select | ENSP00000287598.7:p.Arg550= |
| NM_001211.5:c.1649G= , LRG_489t1:c.1649G= | NP_001202.4:p.Arg550= |
| ENST00000287598.10:c.1649G= | ENSP00000287598.6:p.Arg550= |
| ENST00000412359.7:c.1691G= | ENSP00000398470.3:p.Arg564= |
| ENST00000558972.1:n.454G= | |
| ENST00000559733.5:c.761G= | |
| XR_001751506.1:n.218-22408C= |