HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942715A>G , CM000672.2:g.94942715A>G | GRCh38 |
NC_000010.10:g.96702472A>G , CM000672.1:g.96702472A>G | GRCh37 |
NC_000010.9:g.96692462A>G | NCBI36 |
NG_008385.1:g.9058A>G | |
NG_008385.2:g.9558A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.481+374A>G MANE Select | ENSP00000260682.6:n.481+374A>G | |
ENST00000643112.1:c.481+374A>G | ENSP00000496202.1:n.481+374A>G | |
ENST00000645207.1:n.634+374A>G | ||
ENST00000260682.6:c.481+374A>G | ENSP00000260682.6:n.481+374A>G | |
ENST00000461906.1:n.880A>G | ||
ENST00000473496.1:n.252+374A>G | ||
NM_000771.3:c.481+374A>G | NP_000762.2:n.481+374A>G | |
NM_000771.4:c.481+374A>G MANE Select | NP_000762.2:n.481+374A>G |