HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589807A>C , CM000686.2:g.19589807A>C | GRCh38 |
NC_000024.9:g.21751693A>C , CM000686.1:g.21751693A>C | GRCh37 |
NC_000024.8:g.20211081A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.589+195A>C | ||
ENST00000686905.1:n.1869A>C | ||
ENST00000693214.1:n.1957A>C | ||
ENST00000445715.6:n.491+195A>C | ||
ENST00000407724.7:n.835+195A>C | ||
ENST00000445715.5:n.491+195A>C | ||
ENST00000447202.2:n.2721A>C | ||
ENST00000447520.5:n.491+195A>C | ||
ENST00000459719.6:n.1762+195A>C | ||
ENST00000538014.2:n.1976A>C | ||
ENST00000585549.5:n.134+195A>C | ||
ENST00000587095.1:n.132+195A>C | ||
ENST00000588613.5:n.200+195A>C | ||
ENST00000589075.5:n.173+195A>C | ||
NR_045128.1:n.515+195A>C | ||
NR_045129.1:n.515+195A>C |