HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372401C= , CM000679.2:g.44372401C= | GRCh38 |
NC_000017.10:g.42449769C= , CM000679.1:g.42449769C= | GRCh37 |
NC_000017.9:g.39805295C= | NCBI36 |
NG_008331.1:g.22105G= , LRG_479:g.22105G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3083G= MANE Select | ENSP00000262407.5:p.Arg1028= | |
ENST00000648408.1:c.2397G= | ||
ENST00000262407.5:c.3083G= | ENSP00000262407.5:p.Arg1028= | |
ENST00000587295.5:c.276G= | ||
ENST00000588098.1:c.60G= | ||
NM_000419.3:c.3083G= , LRG_479t1:c.3083G= | NP_000410.2:p.Arg1028= | |
XM_011524749.1:c.2981G= | XP_011523051.1:p.Arg994= | |
XM_011524750.1:c.2966G= | XP_011523052.1:p.Arg989= | |
NM_000419.4:c.3083G= | NP_000410.2:p.Arg1028= | |
NM_000419.5:c.3083G= MANE Select | NP_000410.2:p.Arg1028= |