HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2159729G>T , CM000673.2:g.2159729G>T | GRCh38 |
NC_000011.9:g.2180959G>T , CM000673.1:g.2180959G>T | GRCh37 |
NC_000011.8:g.2137535G>T | NCBI36 |
NG_007114.1:g.6466C>A | |
NG_050578.1:g.6481C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356578.8:c.187+1056C>A | ENSP00000348986.4:n.187+1056C>A | |
ENST00000397270.1:c.187+1056C>A | ENSP00000380440.1:n.187+1056C>A | |
NM_001042376.2:c.187+1056C>A | NP_001035835.1:n.187+1056C>A | |
NR_003512.3:n.246+1056C>A | ||
NM_001042376.3:c.187+1056C>A | NP_001035835.1:n.187+1056C>A | |
NR_003512.4:n.246+1056C>A |