HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94001987T>C , CM000663.2:g.94001987T>C | GRCh38 |
NC_000001.10:g.94467543T>C , CM000663.1:g.94467543T>C | GRCh37 |
NC_000001.9:g.94240131T>C | NCBI36 |
NG_009073.1:g.124163A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6153A>G MANE Select | ENSP00000359245.3:p.Ala2051= | |
ENST00000370225.3:c.6153A>G | ENSP00000359245.3:p.Ala2051= | |
ENST00000465352.1:n.569A>G | ||
ENST00000536513.5:c.2529A>G | ENSP00000439707.2:p.Ala843= | |
NM_000350.2:c.6153A>G | NP_000341.2:p.Ala2051= | |
NM_000350.3:c.6153A>G MANE Select | NP_000341.2:p.Ala2051= |