HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86040401C>T , CM000664.2:g.86040401C>T | GRCh38 |
NC_000002.11:g.86267524C>T , CM000664.1:g.86267524C>T | GRCh37 |
NC_000002.10:g.86121035C>T | NCBI36 |
NG_050742.2:g.70755G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263857.11:c.3731G>A MANE Select | ENSP00000263857.6:p.Gly1244Asp | |
ENST00000263857.10:c.3731G>A | ENSP00000263857.6:p.Gly1244Asp | |
ENST00000409681.1:c.3731G>A | ENSP00000386300.1:p.Gly1244Asp | |
ENST00000462078.1:n.119G>A | ||
NM_015425.3:c.3731G>A | NP_056240.2:p.Gly1244Asp | |
XM_006711983.2:c.3407G>A | XP_006712046.1:p.Gly1136Asp | |
NM_015425.5:c.3731G>A | NP_056240.2:p.Gly1244Asp | |
NM_015425.6:c.3731G>A MANE Select | NP_056240.2:p.Gly1244Asp |