HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589843A>C , CM000686.2:g.19589843A>C | GRCh38 |
NC_000024.9:g.21751729A>C , CM000686.1:g.21751729A>C | GRCh37 |
NC_000024.8:g.20211117A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.589+231A>C | ||
ENST00000686905.1:n.1905A>C | ||
ENST00000693214.1:n.1993A>C | ||
ENST00000445715.6:n.491+231A>C | ||
ENST00000407724.7:n.835+231A>C | ||
ENST00000445715.5:n.491+231A>C | ||
ENST00000447202.2:n.2757A>C | ||
ENST00000447520.5:n.491+231A>C | ||
ENST00000459719.6:n.1762+231A>C | ||
ENST00000538014.2:n.2012A>C | ||
ENST00000585549.5:n.134+231A>C | ||
ENST00000587095.1:n.132+231A>C | ||
ENST00000588613.5:n.200+231A>C | ||
ENST00000589075.5:n.173+231A>C | ||
NR_045128.1:n.515+231A>C | ||
NR_045129.1:n.515+231A>C |