Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591691C>T , CM000677.2:g.80591691C>T | GRCh38 |
| NC_000015.9:g.80884032C>T , CM000677.1:g.80884032C>T | GRCh37 |
| NC_000015.8:g.78671087C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2042C>T MANE Select | ENSP00000307479.4:p.Thr681Ile | |
| ENST00000303329.8:c.2042C>T | ENSP00000307479.4:p.Thr681Ile | |
| ENST00000527771.5:c.2009C>T | ENSP00000453792.1:p.Thr670Ile | |
| ENST00000533983.5:c.2009C>T | ENSP00000453651.1:p.Thr670Ile | |
| ENST00000610490.4:c.*340C>T | ENSP00000483762.1:n.*340C>T | |
| ENST00000622346.4:c.2042C>T | ENSP00000479393.1:p.Thr681Ile | |
| NM_014862.3:c.2042C>T | NP_055677.3:p.Thr681Ile | |
| NM_014862.4:c.2042C>T MANE Select | NP_055677.3:p.Thr681Ile |