HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589429G>C , CM000686.2:g.19589429G>C | GRCh38 |
NC_000024.9:g.21751315G>C , CM000686.1:g.21751315G>C | GRCh37 |
NC_000024.8:g.20210703G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.498-92G>C | ||
ENST00000686905.1:n.1491G>C | ||
ENST00000693214.1:n.1579G>C | ||
ENST00000445715.6:n.400-92G>C | ||
ENST00000407724.7:n.750-98G>C | ||
ENST00000445715.5:n.400-92G>C | ||
ENST00000447202.2:n.2343G>C | ||
ENST00000447520.5:n.400-92G>C | ||
ENST00000459719.6:n.1579G>C | ||
ENST00000538014.2:n.1598G>C | ||
ENST00000585549.5:n.43-92G>C | ||
ENST00000587095.1:n.41-92G>C | ||
ENST00000588613.5:n.109-92G>C | ||
ENST00000589075.5:n.82-92G>C | ||
NR_045128.1:n.424-92G>C | ||
NR_045129.1:n.424-92G>C |