HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121137452G>A , CM000673.2:g.121137452G>A | GRCh38 |
NC_000011.9:g.121008161G>A , CM000673.1:g.121008161G>A | GRCh37 |
NC_000011.8:g.120513371G>A | NCBI36 |
NG_011633.1:g.39787G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392793.6:c.2973G>A (TECTA) MANE Select | ENSP00000376543.1:p.Glu991= | |
ENST00000642222.1:c.2973G>A (TECTA) | ENSP00000493855.1:p.Glu991= | |
ENST00000645008.1:c.280G>A (TECTA) | ||
ENST00000264037.2:c.2973G>A (TECTA) | ENSP00000264037.2:p.Glu991= | |
ENST00000392793.5:c.2973G>A (TECTA) | ENSP00000376543.1:p.Glu991= | |
NM_005422.2:c.2973G>A (TECTA) | NP_005413.2:p.Glu991= | |
NM_001378761.1:c.3930G>A (TBCEL-TECTA) | NP_001365690.1:p.Glu1310= | |
NM_005422.4:c.2973G>A (TECTA) MANE Select | NP_005413.2:p.Glu991= |