HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189045810C>A , CM000664.2:g.189045810C>A | GRCh38 |
NC_000002.11:g.189910536C>A , CM000664.1:g.189910536C>A | GRCh37 |
NC_000002.10:g.189618781C>A | NCBI36 |
NG_011799.1:g.139070G>T | |
NG_011799.2:g.139070G>T | |
NG_011799.3:g.184492G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.3299G>T MANE Select | ENSP00000364000.3:p.Arg1100Ile | |
ENST00000374866.7:c.3299G>T | ENSP00000364000.3:p.Arg1100Ile | |
ENST00000618828.1:c.2138G>T | ENSP00000482184.1:p.Arg713Ile | |
NM_000393.3:c.3299G>T | NP_000384.2:p.Arg1100Ile | |
XM_011510573.1:c.3161G>T | XP_011508875.1:p.Arg1054Ile | |
NM_000393.4:c.3299G>T | NP_000384.2:p.Arg1100Ile | |
XM_011510573.3:c.3161G>T | XP_011508875.1:p.Arg1054Ile | |
NM_000393.5:c.3299G>T MANE Select | NP_000384.2:p.Arg1100Ile |