HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589886A>T , CM000686.2:g.19589886A>T | GRCh38 |
NC_000024.9:g.21751772A>T , CM000686.1:g.21751772A>T | GRCh37 |
NC_000024.8:g.20211160A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.590-197A>T | ||
ENST00000693214.1:n.2036A>T | ||
ENST00000445715.6:n.491+274A>T | ||
ENST00000407724.7:n.836-197A>T | ||
ENST00000445715.5:n.492-197A>T | ||
ENST00000447520.5:n.492-197A>T | ||
ENST00000459719.6:n.1763-197A>T | ||
ENST00000585549.5:n.134+274A>T | ||
ENST00000587095.1:n.132+274A>T | ||
ENST00000588613.5:n.200+274A>T | ||
ENST00000589075.5:n.174-197A>T | ||
NR_045128.1:n.515+274A>T | ||
NR_045129.1:n.516-197A>T |