Revel Score:
ENST00000392793 (MANE Select)
0.664
ENST00000264037
0.664
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121187984C>T , CM000673.2:g.121187984C>T | GRCh38 |
| NC_000011.9:g.121058693C>T , CM000673.1:g.121058693C>T | GRCh37 |
| NC_000011.8:g.120563903C>T | NCBI36 |
| NG_011633.1:g.90319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.6152C>T (TECTA) MANE Select | ENSP00000376543.1:p.Ser2051Phe | |
| ENST00000642222.1:c.6137C>T (TECTA) | ENSP00000493855.1:p.Ser2046Phe | |
| ENST00000645008.1:c.3444C>T (TECTA) | ||
| ENST00000646278.1:n.2532C>T (TECTA) | ||
| ENST00000264037.2:c.6152C>T (TECTA) | ENSP00000264037.2:p.Ser2051Phe | |
| ENST00000392793.5:c.6152C>T (TECTA) | ENSP00000376543.1:p.Ser2051Phe | |
| NM_005422.2:c.6152C>T (TECTA) | NP_005413.2:p.Ser2051Phe | |
| NM_001378761.1:c.7094C>T (TBCEL-TECTA) | NP_001365690.1:p.Ser2365Phe | |
| NM_005422.4:c.6152C>T (TECTA) MANE Select | NP_005413.2:p.Ser2051Phe |