Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27435165T>G , CM000675.2:g.27435165T>G | GRCh38 |
| NC_000013.10:g.28009302T>G , CM000675.1:g.28009302T>G | GRCh37 |
| NC_000013.9:g.26907302T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002097.3:c.906T>G MANE Select | NP_002088.2:p.Asp302Glu |
| ENST00000381140.10:c.906T>G MANE Select | ENSP00000370532.5:p.Asp302Glu |
| NM_002097.2:c.906T>G | NP_002088.2:p.Asp302Glu |
| ENST00000381140.8:c.906T>G | ENSP00000370532.4:p.Asp302Glu |
| ENST00000419181.5:c.*265T>G | ENSP00000389655.1:n.*265T>G |
| ENST00000439403.5:c.1080T>G | ENSP00000393050.2:p.Asp360Glu |
| ENST00000470606.5:n.1636T>G | |
| ENST00000482655.2:n.411T>G |