HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589690T>A , CM000686.2:g.19589690T>A | GRCh38 |
NC_000024.9:g.21751576T>A , CM000686.1:g.21751576T>A | GRCh37 |
NC_000024.8:g.20210964T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.589+78T>A | ||
ENST00000686905.1:n.1752T>A | ||
ENST00000693214.1:n.1840T>A | ||
ENST00000445715.6:n.491+78T>A | ||
ENST00000407724.7:n.835+78T>A | ||
ENST00000445715.5:n.491+78T>A | ||
ENST00000447202.2:n.2604T>A | ||
ENST00000447520.5:n.491+78T>A | ||
ENST00000459719.6:n.1762+78T>A | ||
ENST00000538014.2:n.1859T>A | ||
ENST00000585549.5:n.134+78T>A | ||
ENST00000587095.1:n.132+78T>A | ||
ENST00000588613.5:n.200+78T>A | ||
ENST00000589075.5:n.173+78T>A | ||
NR_045128.1:n.515+78T>A | ||
NR_045129.1:n.515+78T>A |