Revel Score:
ENST00000392793 (MANE Select)
0.799
ENST00000264037
0.799
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121166665G>C , CM000673.2:g.121166665G>C | GRCh38 |
| NC_000011.9:g.121037374G>C , CM000673.1:g.121037374G>C | GRCh37 |
| NC_000011.8:g.120542584G>C | NCBI36 |
| NG_011633.1:g.69000G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5471G>C (TECTA) MANE Select | ENSP00000376543.1:p.Gly1824Ala | |
| ENST00000642222.1:c.5456G>C (TECTA) | ENSP00000493855.1:p.Gly1819Ala | |
| ENST00000645008.1:c.2763G>C (TECTA) | ||
| ENST00000646278.1:n.1392G>C (TECTA) | ||
| ENST00000264037.2:c.5471G>C (TECTA) | ENSP00000264037.2:p.Gly1824Ala | |
| ENST00000392793.5:c.5471G>C (TECTA) | ENSP00000376543.1:p.Gly1824Ala | |
| NM_005422.2:c.5471G>C (TECTA) | NP_005413.2:p.Gly1824Ala | |
| NM_001378761.1:c.6413G>C (TBCEL-TECTA) | NP_001365690.1:p.Gly2138Ala | |
| NM_005422.4:c.5471G>C (TECTA) MANE Select | NP_005413.2:p.Gly1824Ala |