HGVS | Genome Assembly |
---|---|
NC_000007.14:g.77133446G>A , CM000669.2:g.77133446G>A | GRCh38 |
NC_000007.13:g.76762763G>A , CM000669.1:g.76762763G>A | GRCh37 |
NC_000007.12:g.76600699G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285871.5:c.-12+10714G>A MANE Select | ENSP00000285871.4:n.-12+10714G>A | |
ENST00000285871.4:c.-12+10714G>A | ENSP00000285871.4:n.-12+10714G>A | |
ENST00000415750.5:c.-12+10978G>A | ENSP00000388649.1:n.-12+10978G>A | |
NM_020879.2:c.-12+10714G>A | NP_065930.2:n.-12+10714G>A | |
XR_927691.1:n.48-4720C>T | ||
NM_020879.3:c.-12+10714G>A MANE Select | NP_065930.2:n.-12+10714G>A |