HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589557C>A , CM000686.2:g.19589557C>A | GRCh38 |
NC_000024.9:g.21751443C>A , CM000686.1:g.21751443C>A | GRCh37 |
NC_000024.8:g.20210831C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000686158.1:n.534C>A | ||
ENST00000686905.1:n.1619C>A | ||
ENST00000693214.1:n.1707C>A | ||
ENST00000445715.6:n.436C>A | ||
ENST00000407724.7:n.780C>A | ||
ENST00000445715.5:n.436C>A | ||
ENST00000447202.2:n.2471C>A | ||
ENST00000447520.5:n.436C>A | ||
ENST00000459719.6:n.1707C>A | ||
ENST00000538014.2:n.1726C>A | ||
ENST00000585549.5:n.79C>A | ||
ENST00000587095.1:n.77C>A | ||
ENST00000588613.5:n.145C>A | ||
ENST00000589075.5:n.118C>A | ||
NR_045128.1:n.460C>A | ||
NR_045129.1:n.460C>A |