Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259744C= , CM000676.2:g.24259744C= | GRCh38 |
| NC_000014.8:g.24728950C= , CM000676.1:g.24728950C= | GRCh37 |
| NC_000014.7:g.23798790C= | NCBI36 |
| NG_007150.1:g.8423G= | |
| NG_007150.2:g.8423G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.944G= MANE Select | NP_000350.1:p.Arg315= |
| ENST00000206765.11:c.944G= MANE Select | ENSP00000206765.6:p.Arg315= |
| NM_000359.2:c.944G= | NP_000350.1:p.Arg315= |
| ENST00000206765.10:c.944G= | ENSP00000206765.6:p.Arg315= |
| ENST00000544573.5:c.-28-1356G= | ENSP00000439446.1:n.-28-1356G= |
| ENST00000559136.1:c.17G= | ENSP00000453337.1:p.Arg6= |