gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121189078A>T , CM000673.2:g.121189078A>T | GRCh38 |
| NC_000011.9:g.121059787A>T , CM000673.1:g.121059787A>T | GRCh37 |
| NC_000011.8:g.120564997A>T | NCBI36 |
| NG_011633.1:g.91413A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.6163-2A>T (TECTA) MANE Select | ENSP00000376543.1:n.6163-2A>T | |
| ENST00000642222.1:c.6148-2A>T (TECTA) | ENSP00000493855.1:n.6148-2A>T | |
| ENST00000645008.1:c.3455-2A>T (TECTA) | ||
| ENST00000646278.1:n.2543-2A>T (TECTA) | ||
| ENST00000264037.2:c.6163-2A>T (TECTA) | ENSP00000264037.2:n.6163-2A>T | |
| ENST00000392793.5:c.6163-2A>T (TECTA) | ENSP00000376543.1:n.6163-2A>T | |
| NM_005422.2:c.6163-2A>T (TECTA) | NP_005413.2:n.6163-2A>T | |
| NM_001378761.1:c.7105-2A>T (TBCEL-TECTA) | NP_001365690.1:n.7105-2A>T | |
| NM_005422.4:c.6163-2A>T (TECTA) MANE Select | NP_005413.2:n.6163-2A>T |