Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2299457C>T , CM000678.2:g.2299457C>T | GRCh38 |
| NC_000016.9:g.2349458C>T , CM000678.1:g.2349458C>T | GRCh37 |
| NC_000016.8:g.2289459C>T | NCBI36 |
| NG_011790.1:g.46290G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1687G>A MANE Select | NP_001080.2:p.Val563Ile |
| ENST00000301732.10:c.1687G>A MANE Select | ENSP00000301732.5:p.Val563Ile |
| NM_001089.2:c.1687G>A | NP_001080.2:p.Val563Ile |
| ENST00000301732.9:c.1687G>A | ENSP00000301732.5:p.Val563Ile |
| ENST00000382381.7:c.1513G>A | ENSP00000371818.3:p.Val505Ile |
| ENST00000563623.5:n.2250G>A |