HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651906G>T , CM000682.2:g.44651906G>T | GRCh38 |
NC_000020.10:g.43280547G>T , CM000682.1:g.43280547G>T | GRCh37 |
NC_000020.9:g.42713961G>T | NCBI36 |
NG_007385.1:g.4830C>A , LRG_16:g.4830C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-125C>A | ENSP00000512234.1:n.-125C>A | |
ENST00000696039.1:n.317C>A | ||
ENST00000696062.1:c.96+194C>A | ENSP00000512365.1:n.96+194C>A | |
ENST00000696064.1:c.-122C>A | ENSP00000512367.1:n.-122C>A | |
ENST00000696065.1:c.-125C>A | ENSP00000512368.1:n.-125C>A | |
ENST00000535573.1:n.328C>A | ||
ENST00000536076.1:n.209C>A | ||
XM_011528479.1:c.-261C>A | XP_011526781.1:n.-261C>A |