HGVS | Genome Assembly |
---|---|
NC_000008.11:g.47960274G>A , CM000670.2:g.47960274G>A | GRCh38 |
NC_000008.10:g.48872834G>A , CM000670.1:g.48872834G>A | GRCh37 |
NC_000008.9:g.49035387G>A | NCBI36 |
NG_023435.1:g.4910C>T , LRG_162:g.4910C>T | |
NG_032967.1:g.5072G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518221.5:c.-61G>A | ENSP00000430329.1:n.-61G>A | |
NM_005914.3:c.-871G>A | NP_005905.2:n.-871G>A | |
NM_182746.2:c.-755G>A | NP_877423.1:n.-755G>A | |
XM_005251234.1:c.-1117G>A | XP_005251291.1:n.-1117G>A |