Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206705814C>T , CM000664.2:g.206705814C>T | GRCh38 |
| NC_000002.11:g.207570538C>T , CM000664.1:g.207570538C>T | GRCh37 |
| NC_000002.10:g.207278783C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001093730.1:c.356G>A MANE Select | NP_001087199.1:p.Gly119Glu |
| ENST00000452335.2:c.356G>A MANE Select | ENSP00000396593.2:p.Gly119Glu |
| ENST00000477734.2:c.261G>A | |
| ENST00000674258.1:n.667G>A |