Revel Score:
ENST00000392793 (MANE Select)
0.882
ENST00000264037
0.882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121187881T>C , CM000673.2:g.121187881T>C | GRCh38 |
| NC_000011.9:g.121058590T>C , CM000673.1:g.121058590T>C | GRCh37 |
| NC_000011.8:g.120563800T>C | NCBI36 |
| NG_011633.1:g.90216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.6049T>C (TECTA) MANE Select | ENSP00000376543.1:p.Ser2017Pro | |
| ENST00000642222.1:c.6034T>C (TECTA) | ENSP00000493855.1:p.Ser2012Pro | |
| ENST00000645008.1:c.3341T>C (TECTA) | ||
| ENST00000646278.1:n.2429T>C (TECTA) | ||
| ENST00000264037.2:c.6049T>C (TECTA) | ENSP00000264037.2:p.Ser2017Pro | |
| ENST00000392793.5:c.6049T>C (TECTA) | ENSP00000376543.1:p.Ser2017Pro | |
| NM_005422.2:c.6049T>C (TECTA) | NP_005413.2:p.Ser2017Pro | |
| NM_001378761.1:c.6991T>C (TBCEL-TECTA) | NP_001365690.1:p.Ser2331Pro | |
| NM_005422.4:c.6049T>C (TECTA) MANE Select | NP_005413.2:p.Ser2017Pro |