HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589560T>A , CM000686.2:g.19589560T>A | GRCh38 |
NC_000024.9:g.21751446T>A , CM000686.1:g.21751446T>A | GRCh37 |
NC_000024.8:g.20210834T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.537T>A | ||
ENST00000686905.1:n.1622T>A | ||
ENST00000693214.1:n.1710T>A | ||
ENST00000445715.6:n.439T>A | ||
ENST00000407724.7:n.783T>A | ||
ENST00000445715.5:n.439T>A | ||
ENST00000447202.2:n.2474T>A | ||
ENST00000447520.5:n.439T>A | ||
ENST00000459719.6:n.1710T>A | ||
ENST00000538014.2:n.1729T>A | ||
ENST00000585549.5:n.82T>A | ||
ENST00000587095.1:n.80T>A | ||
ENST00000588613.5:n.148T>A | ||
ENST00000589075.5:n.121T>A | ||
NR_045128.1:n.463T>A | ||
NR_045129.1:n.463T>A |