Revel Score:
ENST00000392793 (MANE Select)
0.797
ENST00000264037
0.797
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168064C>G , CM000673.2:g.121168064C>G | GRCh38 |
| NC_000011.9:g.121038773C>G , CM000673.1:g.121038773C>G | GRCh37 |
| NC_000011.8:g.120543983C>G | NCBI36 |
| NG_011633.1:g.70399C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5597C>G (TECTA) MANE Select | ENSP00000376543.1:p.Thr1866Arg | |
| ENST00000642222.1:c.5582C>G (TECTA) | ENSP00000493855.1:p.Thr1861Arg | |
| ENST00000645008.1:c.2889C>G (TECTA) | ||
| ENST00000646278.1:n.1518C>G (TECTA) | ||
| ENST00000264037.2:c.5597C>G (TECTA) | ENSP00000264037.2:p.Thr1866Arg | |
| ENST00000392793.5:c.5597C>G (TECTA) | ENSP00000376543.1:p.Thr1866Arg | |
| NM_005422.2:c.5597C>G (TECTA) | NP_005413.2:p.Thr1866Arg | |
| NM_001378761.1:c.6539C>G (TBCEL-TECTA) | NP_001365690.1:p.Thr2180Arg | |
| NM_005422.4:c.5597C>G (TECTA) MANE Select | NP_005413.2:p.Thr1866Arg |