HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589830A>C , CM000686.2:g.19589830A>C | GRCh38 |
NC_000024.9:g.21751716A>C , CM000686.1:g.21751716A>C | GRCh37 |
NC_000024.8:g.20211104A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.589+218A>C | ||
ENST00000686905.1:n.1892A>C | ||
ENST00000693214.1:n.1980A>C | ||
ENST00000445715.6:n.491+218A>C | ||
ENST00000407724.7:n.835+218A>C | ||
ENST00000445715.5:n.491+218A>C | ||
ENST00000447202.2:n.2744A>C | ||
ENST00000447520.5:n.491+218A>C | ||
ENST00000459719.6:n.1762+218A>C | ||
ENST00000538014.2:n.1999A>C | ||
ENST00000585549.5:n.134+218A>C | ||
ENST00000587095.1:n.132+218A>C | ||
ENST00000588613.5:n.200+218A>C | ||
ENST00000589075.5:n.173+218A>C | ||
NR_045128.1:n.515+218A>C | ||
NR_045129.1:n.515+218A>C |