HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189045907C>A , CM000664.2:g.189045907C>A | GRCh38 |
NC_000002.11:g.189910633C>A , CM000664.1:g.189910633C>A | GRCh37 |
NC_000002.10:g.189618878C>A | NCBI36 |
NG_011799.1:g.138973G>T | |
NG_011799.2:g.138973G>T | |
NG_011799.3:g.184395G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3202G>T MANE Select | ENSP00000364000.3:p.Gly1068Cys | |
ENST00000374866.7:c.3202G>T | ENSP00000364000.3:p.Gly1068Cys | |
ENST00000618828.1:c.2041G>T | ENSP00000482184.1:p.Gly681Cys | |
NM_000393.3:c.3202G>T | NP_000384.2:p.Gly1068Cys | |
XM_011510573.1:c.3064G>T | XP_011508875.1:p.Gly1022Cys | |
NM_000393.4:c.3202G>T | NP_000384.2:p.Gly1068Cys | |
XM_011510573.3:c.3064G>T | XP_011508875.1:p.Gly1022Cys | |
NM_000393.5:c.3202G>T MANE Select | NP_000384.2:p.Gly1068Cys |