HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189098749A>C , CM000664.2:g.189098749A>C | GRCh38 |
NC_000002.11:g.189963475A>C , CM000664.1:g.189963475A>C | GRCh37 |
NC_000002.10:g.189671720A>C | NCBI36 |
NG_011799.1:g.86131T>G | |
NG_011799.2:g.86131T>G | |
NG_011799.3:g.131553T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.380T>G MANE Select | ENSP00000364000.3:p.Ile127Arg | |
ENST00000649966.1:c.242T>G | ENSP00000496785.1:p.Ile81Arg | |
ENST00000374866.7:c.380T>G | ENSP00000364000.3:p.Ile127Arg | |
ENST00000618828.1:c.-251T>G | ENSP00000482184.1:n.-251T>G | |
NM_000393.3:c.380T>G | NP_000384.2:p.Ile127Arg | |
XM_011510573.1:c.242T>G | XP_011508875.1:p.Ile81Arg | |
NM_000393.4:c.380T>G | NP_000384.2:p.Ile127Arg | |
XM_011510573.3:c.242T>G | XP_011508875.1:p.Ile81Arg | |
NM_000393.5:c.380T>G MANE Select | NP_000384.2:p.Ile127Arg |