HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189045814G>T , CM000664.2:g.189045814G>T | GRCh38 |
NC_000002.11:g.189910540G>T , CM000664.1:g.189910540G>T | GRCh37 |
NC_000002.10:g.189618785G>T | NCBI36 |
NG_011799.1:g.139066C>A | |
NG_011799.2:g.139066C>A | |
NG_011799.3:g.184488C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.3295C>A MANE Select | ENSP00000364000.3:p.Gln1099Lys | |
ENST00000374866.7:c.3295C>A | ENSP00000364000.3:p.Gln1099Lys | |
ENST00000618828.1:c.2134C>A | ENSP00000482184.1:p.Gln712Lys | |
NM_000393.3:c.3295C>A | NP_000384.2:p.Gln1099Lys | |
XM_011510573.1:c.3157C>A | XP_011508875.1:p.Gln1053Lys | |
NM_000393.4:c.3295C>A | NP_000384.2:p.Gln1099Lys | |
XM_011510573.3:c.3157C>A | XP_011508875.1:p.Gln1053Lys | |
NM_000393.5:c.3295C>A MANE Select | NP_000384.2:p.Gln1099Lys |