Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.13475863C>T , CM000663.2:g.13475863C>T | GRCh38 |
| NC_000001.10:g.13802331C>T , CM000663.1:g.13802331C>T | GRCh37 |
| NC_000001.9:g.13674918C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010847.2:c.868G>A MANE Select | NP_001010847.1:p.Glu290Lys |
| ENST00000376085.4:c.868G>A MANE Select | ENSP00000365253.3:p.Glu290Lys |
| NM_001010847.1:c.868G>A | NP_001010847.1:p.Glu290Lys |
| ENST00000376085.3:c.868G>A | ENSP00000365253.3:p.Glu290Lys |