gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168903C>T , CM000673.2:g.121168903C>T | GRCh38 |
| NC_000011.9:g.121039612C>T , CM000673.1:g.121039612C>T | GRCh37 |
| NC_000011.8:g.120544822C>T | NCBI36 |
| NG_011633.1:g.71238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5977C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1993Ter | |
| ENST00000642222.1:c.5962C>T (TECTA) | ENSP00000493855.1:p.Arg1988Ter | |
| ENST00000645008.1:c.3269C>T (TECTA) | ||
| ENST00000646278.1:n.2357C>T (TECTA) | ||
| ENST00000264037.2:c.5977C>T (TECTA) | ENSP00000264037.2:p.Arg1993Ter | |
| ENST00000392793.5:c.5977C>T (TECTA) | ENSP00000376543.1:p.Arg1993Ter | |
| NM_005422.2:c.5977C>T (TECTA) | NP_005413.2:p.Arg1993Ter | |
| NM_001378761.1:c.6919C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg2307Ter | |
| NM_005422.4:c.5977C>T (TECTA) MANE Select | NP_005413.2:p.Arg1993Ter |