HGVS | Genome Assembly |
---|---|
NC_000008.11:g.47960431C>A , CM000670.2:g.47960431C>A | GRCh38 |
NC_000008.10:g.48872991C>A , CM000670.1:g.48872991C>A | GRCh37 |
NC_000008.9:g.49035544C>A | NCBI36 |
NG_023435.1:g.4753G>T , LRG_162:g.4753G>T | |
NG_032967.1:g.5229C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518221.5:c.-15+111C>A | ENSP00000430329.1:n.-15+111C>A | |
NM_005914.3:c.-714C>A | NP_005905.2:n.-714C>A | |
NM_182746.2:c.-598C>A | NP_877423.1:n.-598C>A | |
XM_005251234.1:c.-960C>A | XP_005251291.1:n.-960C>A |