Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40176672C= , CM000677.2:g.40176672C= | GRCh38 |
| NC_000015.9:g.40468873C= , CM000677.1:g.40468873C= | GRCh37 |
| NC_000015.8:g.38256165C= | NCBI36 |
| NG_016338.1:g.20664C= , LRG_489:g.20664C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.580C= MANE Select | NP_001202.5:p.Arg194= |
| ENST00000287598.11:c.580C= MANE Select | ENSP00000287598.7:p.Arg194= |
| NM_001211.5:c.580C= , LRG_489t1:c.580C= | NP_001202.4:p.Arg194= |
| ENST00000287598.10:c.580C= | ENSP00000287598.6:p.Arg194= |
| ENST00000412359.7:c.622C= | ENSP00000398470.3:p.Arg208= |
| XR_001751506.1:n.392-2188G= |