HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241686G>A , CM000667.2:g.157241686G>A | GRCh38 |
NC_000005.9:g.156668696G>A , CM000667.1:g.156668696G>A | GRCh37 |
NC_000005.8:g.156601274G>A | NCBI36 |
NG_016276.1:g.65790G>A , LRG_189:g.65790G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696962.1:c.892G>A | ENSP00000513001.1:p.Ala298Thr | |
ENST00000422843.8:c.1026G>A MANE Select | ENSP00000398655.4:p.Arg342= | |
ENST00000422843.7:c.1026G>A | ENSP00000398655.3:p.Arg342= | |
ENST00000519402.5:n.2611G>A | ||
ENST00000519749.1:n.96G>A | ||
ENST00000520173.1:n.144G>A | ||
NM_005546.3:c.1026G>A , LRG_189t1:c.1026G>A | NP_005537.3:p.Arg342= | |
XM_017009443.1:c.651G>A | XP_016864932.1:p.Arg217= | |
NM_005546.4:c.1026G>A MANE Select | NP_005537.3:p.Arg342= |