HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591681C>A , CM000677.2:g.80591681C>A | GRCh38 |
NC_000015.9:g.80884022C>A , CM000677.1:g.80884022C>A | GRCh37 |
NC_000015.8:g.78671077C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.2032C>A MANE Select | ENSP00000307479.4:p.Pro678Thr | |
ENST00000303329.8:c.2032C>A | ENSP00000307479.4:p.Pro678Thr | |
ENST00000527771.5:c.1999C>A | ENSP00000453792.1:p.Pro667Thr | |
ENST00000533983.5:c.1999C>A | ENSP00000453651.1:p.Pro667Thr | |
ENST00000610490.4:c.*330C>A | ENSP00000483762.1:n.*330C>A | |
ENST00000622346.4:c.2032C>A | ENSP00000479393.1:p.Pro678Thr | |
NM_014862.3:c.2032C>A | NP_055677.3:p.Pro678Thr | |
NM_014862.4:c.2032C>A MANE Select | NP_055677.3:p.Pro678Thr |