Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82043976G>C , CM000677.2:g.82043976G>C | GRCh38 |
| NC_000015.9:g.82336317G>C , CM000677.1:g.82336317G>C | GRCh37 |
| NC_000015.8:g.80123372G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329713.5:c.894C>G MANE Select | ENSP00000329918.4:p.Asp298Glu | |
| ENST00000329713.4:c.894C>G | ENSP00000329918.4:p.Asp298Glu | |
| ENST00000558133.1:c.*1253C>G | ENSP00000456938.1:n.*1253C>G | |
| NM_032246.4:c.894C>G | NP_115622.2:p.Asp298Glu | |
| NM_032246.5:c.894C>G | NP_115622.2:p.Asp298Glu | |
| NM_032246.6:c.894C>G MANE Select | NP_115622.2:p.Asp298Glu |