HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96205009A>G , CM000676.2:g.96205009A>G | GRCh38 |
NC_000014.8:g.96671346A>G , CM000676.1:g.96671346A>G | GRCh37 |
NC_000014.7:g.95741099A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000554311.2:c.-40+50A>G MANE Select | ENSP00000450482.1:n.-40+50A>G | |
ENST00000539359.1:c.-282+50A>G | ENSP00000438376.1:n.-282+50A>G | |
ENST00000542454.2:c.-2808+50A>G | ENSP00000439459.2:n.-2808+50A>G | |
ENST00000553811.1:c.-35+50A>G | ENSP00000450984.1:n.-35+50A>G | |
ENST00000554311.1:c.-40+50A>G | ENSP00000450482.1:n.-40+50A>G | |
NM_000623.3:c.-35+50A>G | NP_000614.1:n.-35+50A>G | |
NM_000623.4:c.-35+50A>G | NP_000614.1:n.-35+50A>G | |
NM_001379692.1:c.-40+50A>G MANE Select | NP_001366621.1:n.-40+50A>G |