HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94007655T>C , CM000663.2:g.94007655T>C | GRCh38 |
NC_000001.10:g.94473211T>C , CM000663.1:g.94473211T>C | GRCh37 |
NC_000001.9:g.94245799T>C | NCBI36 |
NG_009073.1:g.118495A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.5984A>G MANE Select | ENSP00000359245.3:p.Asp1995Gly | |
ENST00000370225.3:c.5984A>G | ENSP00000359245.3:p.Asp1995Gly | |
ENST00000465352.1:n.400A>G | ||
ENST00000484388.1:n.98A>G | ||
ENST00000536513.5:c.2360A>G | ENSP00000439707.2:p.Asp787Gly | |
NM_000350.2:c.5984A>G | NP_000341.2:p.Asp1995Gly | |
NM_000350.3:c.5984A>G MANE Select | NP_000341.2:p.Asp1995Gly |