HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118340370C>T , CM000673.2:g.118340370C>T | GRCh38 |
NC_000011.9:g.118211085C>T , CM000673.1:g.118211085C>T | GRCh37 |
NC_000011.8:g.117716295C>T | NCBI36 |
NG_007566.1:g.1027C>T , LRG_39:g.1027C>T | |
NG_009891.1:g.7375G>A , LRG_37:g.7375G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695666.1:n.298G>A | ||
ENST00000695667.1:n.279+5G>A | ||
ENST00000695668.1:n.2259+5G>A | ||
ENST00000300692.9:c.274+5G>A MANE Select | ENSP00000300692.4:n.274+5G>A | |
ENST00000300692.8:c.274+5G>A | ENSP00000300692.4:n.274+5G>A | |
ENST00000392884.2:c.274+5G>A | ENSP00000376622.2:n.274+5G>A | |
ENST00000526561.1:n.80-876G>A | ||
ENST00000529594.5:c.56-464G>A | ENSP00000437335.1:n.56-464G>A | |
ENST00000534687.5:c.287+5G>A | ||
NM_000732.4:c.274+5G>A , LRG_37t1:c.274+5G>A | NP_000723.1:n.274+5G>A | |
NM_001040651.1:c.274+5G>A | NP_001035741.1:n.274+5G>A | |
NM_001040651.2:c.274+5G>A | NP_001035741.1:n.274+5G>A | |
NM_000732.6:c.274+5G>A MANE Select | NP_000723.1:n.274+5G>A |