Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40185630G= , CM000677.2:g.40185630G= | GRCh38 |
| NC_000015.9:g.40477831G= , CM000677.1:g.40477831G= | GRCh37 |
| NC_000015.8:g.38265123G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.1046G= MANE Select | ENSP00000287598.7:p.Arg349= | |
| ENST00000287598.10:c.1046G= | ENSP00000287598.6:p.Arg349= | |
| ENST00000412359.7:c.1088G= | ENSP00000398470.3:p.Arg363= | |
| ENST00000557848.1:n.305G= | ||
| ENST00000559733.5:c.170+1747G= | ||
| ENST00000559772.1:n.159G= | ||
| XR_001751506.1:n.218-5429C= | ||
| NM_001211.6:c.1046G= MANE Select | NP_001202.5:p.Arg349= |