HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94043343G>C , CM000663.2:g.94043343G>C | GRCh38 |
NC_000001.10:g.94508899G>C , CM000663.1:g.94508899G>C | GRCh37 |
NC_000001.9:g.94281487G>C | NCBI36 |
NG_009073.1:g.82807C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3183C>G MANE Select | ENSP00000359245.3:p.Asp1061Glu | |
ENST00000370225.3:c.3183C>G | ENSP00000359245.3:p.Asp1061Glu | |
ENST00000536513.5:c.-64-3254C>G | ENSP00000439707.2:n.-64-3254C>G | |
NM_000350.2:c.3183C>G | NP_000341.2:p.Asp1061Glu | |
NM_000350.3:c.3183C>G MANE Select | NP_000341.2:p.Asp1061Glu |