Revel Score:
ENST00000392793 (MANE Select)
0.825
ENST00000264037
0.825
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121187894G>A , CM000673.2:g.121187894G>A | GRCh38 |
| NC_000011.9:g.121058603G>A , CM000673.1:g.121058603G>A | GRCh37 |
| NC_000011.8:g.120563813G>A | NCBI36 |
| NG_011633.1:g.90229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.6062G>A (TECTA) MANE Select | ENSP00000376543.1:p.Arg2021His | |
| ENST00000642222.1:c.6047G>A (TECTA) | ENSP00000493855.1:p.Arg2016His | |
| ENST00000645008.1:c.3354G>A (TECTA) | ||
| ENST00000646278.1:n.2442G>A (TECTA) | ||
| ENST00000264037.2:c.6062G>A (TECTA) | ENSP00000264037.2:p.Arg2021His | |
| ENST00000392793.5:c.6062G>A (TECTA) | ENSP00000376543.1:p.Arg2021His | |
| NM_005422.2:c.6062G>A (TECTA) | NP_005413.2:p.Arg2021His | |
| NM_001378761.1:c.7004G>A (TBCEL-TECTA) | NP_001365690.1:p.Arg2335His | |
| NM_005422.4:c.6062G>A (TECTA) MANE Select | NP_005413.2:p.Arg2021His |