HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86643794C>T , CM000670.2:g.86643794C>T | GRCh38 |
NC_000008.10:g.87656022C>T , CM000670.1:g.87656022C>T | GRCh37 |
NC_000008.9:g.87725138C>T | NCBI36 |
NG_016980.1:g.104882G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.1135G>A MANE Select | ENSP00000316605.5:p.Gly379Arg | |
ENST00000681546.1:n.955G>A | ||
ENST00000681746.1:c.1135G>A | ENSP00000505959.1:p.Gly379Arg | |
ENST00000320005.5:c.1135G>A | ENSP00000316605.5:p.Gly379Arg | |
NM_019098.4:c.1135G>A | NP_061971.3:p.Gly379Arg | |
XM_011517138.1:c.721G>A | XP_011515440.1:p.Gly241Arg | |
XM_011517138.2:c.721G>A | XP_011515440.1:p.Gly241Arg | |
NM_019098.5:c.1135G>A MANE Select | NP_061971.3:p.Gly379Arg |