HGVS | Genome Assembly |
---|---|
NC_000015.10:g.72376040C>T , CM000677.2:g.72376040C>T | GRCh38 |
NC_000015.9:g.72668381C>T , CM000677.1:g.72668381C>T | GRCh37 |
NC_000015.8:g.70455435C>T | NCBI36 |
NG_009017.1:g.5140G>A | |
NG_009017.2:g.5140G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268097.9:c.-68G>A | ENSP00000268097.5:n.-68G>A | |
ENST00000569509.5:n.147-209G>A | ||
NM_000520.4:c.-68G>A | NP_000511.2:n.-68G>A | |
NM_000520.5:c.-68G>A | NP_000511.2:n.-68G>A | |
NM_001318825.1:c.-68G>A | NP_001305754.1:n.-68G>A | |
NR_134869.1:n.434G>A |