HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589880A>T , CM000686.2:g.19589880A>T | GRCh38 |
NC_000024.9:g.21751766A>T , CM000686.1:g.21751766A>T | GRCh37 |
NC_000024.8:g.20211154A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.590-203A>T | ||
ENST00000693214.1:n.2030A>T | ||
ENST00000445715.6:n.491+268A>T | ||
ENST00000407724.7:n.836-203A>T | ||
ENST00000445715.5:n.492-203A>T | ||
ENST00000447520.5:n.492-203A>T | ||
ENST00000459719.6:n.1763-203A>T | ||
ENST00000585549.5:n.134+268A>T | ||
ENST00000587095.1:n.132+268A>T | ||
ENST00000588613.5:n.200+268A>T | ||
ENST00000589075.5:n.174-203A>T | ||
NR_045128.1:n.515+268A>T | ||
NR_045129.1:n.516-203A>T |