HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589883C>T , CM000686.2:g.19589883C>T | GRCh38 |
NC_000024.9:g.21751769C>T , CM000686.1:g.21751769C>T | GRCh37 |
NC_000024.8:g.20211157C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.590-200C>T | ||
ENST00000693214.1:n.2033C>T | ||
ENST00000445715.6:n.491+271C>T | ||
ENST00000407724.7:n.836-200C>T | ||
ENST00000445715.5:n.492-200C>T | ||
ENST00000447520.5:n.492-200C>T | ||
ENST00000459719.6:n.1763-200C>T | ||
ENST00000585549.5:n.134+271C>T | ||
ENST00000587095.1:n.132+271C>T | ||
ENST00000588613.5:n.200+271C>T | ||
ENST00000589075.5:n.174-200C>T | ||
NR_045128.1:n.515+271C>T | ||
NR_045129.1:n.516-200C>T |