HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021700T>G , CM000663.2:g.94021700T>G | GRCh38 |
NC_000001.10:g.94487256T>G , CM000663.1:g.94487256T>G | GRCh37 |
NC_000001.9:g.94259844T>G | NCBI36 |
NG_009073.1:g.104450A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4788A>C MANE Select | ENSP00000359245.3:p.Arg1596Ser | |
ENST00000370225.3:c.4788A>C | ENSP00000359245.3:p.Arg1596Ser | |
ENST00000460514.1:n.282A>C | ||
ENST00000536513.5:c.1164A>C | ENSP00000439707.2:p.Arg388Ser | |
NM_000350.2:c.4788A>C | NP_000341.2:p.Arg1596Ser | |
NM_000350.3:c.4788A>C MANE Select | NP_000341.2:p.Arg1596Ser |