Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591594T= , CM000677.2:g.80591594T= | GRCh38 |
| NC_000015.9:g.80883935T= , CM000677.1:g.80883935T= | GRCh37 |
| NC_000015.8:g.78670990T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.1945T= MANE Select | ENSP00000307479.4:p.Phe649= | |
| ENST00000303329.8:c.1945T= | ENSP00000307479.4:p.Phe649= | |
| ENST00000527771.5:c.1912T= | ENSP00000453792.1:p.Phe638= | |
| ENST00000533983.5:c.1912T= | ENSP00000453651.1:p.Phe638= | |
| ENST00000610490.4:c.*243T= | ENSP00000483762.1:n.*243T= | |
| ENST00000622346.4:c.1945T= | ENSP00000479393.1:p.Phe649= | |
| NM_014862.3:c.1945T= | NP_055677.3:p.Phe649= | |
| NM_014862.4:c.1945T= MANE Select | NP_055677.3:p.Phe649= |