HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121129970G>A , CM000673.2:g.121129970G>A | GRCh38 |
NC_000011.9:g.121000679G>A , CM000673.1:g.121000679G>A | GRCh37 |
NC_000011.8:g.120505889G>A | NCBI36 |
NG_011633.1:g.32305G>A |
HGVS | Amino-acid Change |
---|---|
NM_005422.4:c.2700G>A (TECTA) MANE Select | NP_005413.2:p.Ser900= |
ENST00000392793.6:c.2700G>A (TECTA) MANE Select | ENSP00000376543.1:p.Ser900= |
NM_001378761.1:c.3657G>A (TBCEL-TECTA) | NP_001365690.1:p.Ser1219= |
NM_005422.2:c.2700G>A (TECTA) | NP_005413.2:p.Ser900= |
ENST00000264037.2:c.2700G>A (TECTA) | ENSP00000264037.2:p.Ser900= |
ENST00000392793.5:c.2700G>A (TECTA) | ENSP00000376543.1:p.Ser900= |
ENST00000642222.1:c.2700G>A (TECTA) | ENSP00000493855.1:p.Ser900= |
ENST00000645008.1:c.7G>A (TECTA) |