Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591663C>G , CM000677.2:g.80591663C>G | GRCh38 |
| NC_000015.9:g.80884004C>G , CM000677.1:g.80884004C>G | GRCh37 |
| NC_000015.8:g.78671059C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2014C>G MANE Select | ENSP00000307479.4:p.Gln672Glu | |
| ENST00000303329.8:c.2014C>G | ENSP00000307479.4:p.Gln672Glu | |
| ENST00000527771.5:c.1981C>G | ENSP00000453792.1:p.Gln661Glu | |
| ENST00000533983.5:c.1981C>G | ENSP00000453651.1:p.Gln661Glu | |
| ENST00000610490.4:c.*312C>G | ENSP00000483762.1:n.*312C>G | |
| ENST00000622346.4:c.2014C>G | ENSP00000479393.1:p.Gln672Glu | |
| NM_014862.3:c.2014C>G | NP_055677.3:p.Gln672Glu | |
| NM_014862.4:c.2014C>G MANE Select | NP_055677.3:p.Gln672Glu |