HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121137462A>G , CM000673.2:g.121137462A>G | GRCh38 |
NC_000011.9:g.121008171A>G , CM000673.1:g.121008171A>G | GRCh37 |
NC_000011.8:g.120513381A>G | NCBI36 |
NG_011633.1:g.39797A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392793.6:c.2983A>G (TECTA) MANE Select | ENSP00000376543.1:p.Thr995Ala | |
ENST00000642222.1:c.2983A>G (TECTA) | ENSP00000493855.1:p.Thr995Ala | |
ENST00000645008.1:c.290A>G (TECTA) | ||
ENST00000264037.2:c.2983A>G (TECTA) | ENSP00000264037.2:p.Thr995Ala | |
ENST00000392793.5:c.2983A>G (TECTA) | ENSP00000376543.1:p.Thr995Ala | |
NM_005422.2:c.2983A>G (TECTA) | NP_005413.2:p.Thr995Ala | |
NM_001378761.1:c.3940A>G (TBCEL-TECTA) | NP_001365690.1:p.Thr1314Ala | |
NM_005422.4:c.2983A>G (TECTA) MANE Select | NP_005413.2:p.Thr995Ala |