HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589563C>A , CM000686.2:g.19589563C>A | GRCh38 |
NC_000024.9:g.21751449C>A , CM000686.1:g.21751449C>A | GRCh37 |
NC_000024.8:g.20210837C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.540C>A | ||
ENST00000686905.1:n.1625C>A | ||
ENST00000693214.1:n.1713C>A | ||
ENST00000445715.6:n.442C>A | ||
ENST00000407724.7:n.786C>A | ||
ENST00000445715.5:n.442C>A | ||
ENST00000447202.2:n.2477C>A | ||
ENST00000447520.5:n.442C>A | ||
ENST00000459719.6:n.1713C>A | ||
ENST00000538014.2:n.1732C>A | ||
ENST00000585549.5:n.85C>A | ||
ENST00000587095.1:n.83C>A | ||
ENST00000588613.5:n.151C>A | ||
ENST00000589075.5:n.124C>A | ||
NR_045128.1:n.466C>A | ||
NR_045129.1:n.466C>A |