HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154470C= , CM000668.2:g.3154470C= | GRCh38 |
NC_000006.11:g.3154704C= , CM000668.1:g.3154704C= | GRCh37 |
NC_000006.10:g.3099703C= | NCBI36 |
NG_042223.1:g.8080G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333628.4:c.731G= MANE Select | ENSP00000369703.2:p.Gly244= | |
ENST00000679400.1:n.787G= | ||
ENST00000679907.1:n.1119G= | ||
ENST00000680036.1:n.1513G= | ||
ENST00000680967.1:n.1821G= | ||
ENST00000333628.3:c.731G= | ENSP00000369703.2:p.Gly244= | |
NM_001069.2:c.731G= | NP_001060.1:p.Gly244= | |
NM_001310315.1:c.476G= | NP_001297244.1:p.Gly159= | |
NM_001069.3:c.731G= MANE Select | NP_001060.1:p.Gly244= | |
NM_001310315.2:c.476G= | NP_001297244.1:p.Gly159= |