HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589742C>T , CM000686.2:g.19589742C>T | GRCh38 |
NC_000024.9:g.21751628C>T , CM000686.1:g.21751628C>T | GRCh37 |
NC_000024.8:g.20211016C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.589+130C>T | ||
ENST00000686905.1:n.1804C>T | ||
ENST00000693214.1:n.1892C>T | ||
ENST00000445715.6:n.491+130C>T | ||
ENST00000407724.7:n.835+130C>T | ||
ENST00000445715.5:n.491+130C>T | ||
ENST00000447202.2:n.2656C>T | ||
ENST00000447520.5:n.491+130C>T | ||
ENST00000459719.6:n.1762+130C>T | ||
ENST00000538014.2:n.1911C>T | ||
ENST00000585549.5:n.134+130C>T | ||
ENST00000587095.1:n.132+130C>T | ||
ENST00000588613.5:n.200+130C>T | ||
ENST00000589075.5:n.173+130C>T | ||
NR_045128.1:n.515+130C>T | ||
NR_045129.1:n.515+130C>T |