HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021338C>T , CM000663.2:g.94021338C>T | GRCh38 |
NC_000001.10:g.94486894C>T , CM000663.1:g.94486894C>T | GRCh37 |
NC_000001.9:g.94259482C>T | NCBI36 |
NG_009073.1:g.104812G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4920G>A MANE Select | ENSP00000359245.3:p.Arg1640= | |
ENST00000370225.3:c.4920G>A | ENSP00000359245.3:p.Arg1640= | |
ENST00000460514.1:n.414G>A | ||
ENST00000470771.1:n.30G>A | ||
ENST00000536513.5:c.1296G>A | ENSP00000439707.2:p.Arg432= | |
NM_000350.2:c.4920G>A | NP_000341.2:p.Arg1640= | |
NM_000350.3:c.4920G>A MANE Select | NP_000341.2:p.Arg1640= |