gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121162074G>T , CM000673.2:g.121162074G>T | GRCh38 |
| NC_000011.9:g.121032783G>T , CM000673.1:g.121032783G>T | GRCh37 |
| NC_000011.8:g.120537993G>T | NCBI36 |
| NG_011633.1:g.64409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4977-1G>T (TECTA) MANE Select | ENSP00000376543.1:n.4977-1G>T | |
| ENST00000642222.1:c.4977-16G>T (TECTA) | ENSP00000493855.1:n.4977-16G>T | |
| ENST00000645008.1:c.2284-16G>T (TECTA) | ||
| ENST00000646278.1:n.913-16G>T (TECTA) | ||
| ENST00000264037.2:c.4977-1G>T (TECTA) | ENSP00000264037.2:n.4977-1G>T | |
| ENST00000392793.5:c.4977-1G>T (TECTA) | ENSP00000376543.1:n.4977-1G>T | |
| NM_005422.2:c.4977-1G>T (TECTA) | NP_005413.2:n.4977-1G>T | |
| NM_001378761.1:c.5934-16G>T (TBCEL-TECTA) | NP_001365690.1:n.5934-16G>T | |
| NM_005422.4:c.4977-1G>T (TECTA) MANE Select | NP_005413.2:n.4977-1G>T |