Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137452G>T , CM000673.2:g.121137452G>T | GRCh38 |
| NC_000011.9:g.121008161G>T , CM000673.1:g.121008161G>T | GRCh37 |
| NC_000011.8:g.120513371G>T | NCBI36 |
| NG_011633.1:g.39787G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2973G>T (TECTA) MANE Select | ENSP00000376543.1:p.Glu991Asp | |
| ENST00000642222.1:c.2973G>T (TECTA) | ENSP00000493855.1:p.Glu991Asp | |
| ENST00000645008.1:c.280G>T (TECTA) | ||
| ENST00000264037.2:c.2973G>T (TECTA) | ENSP00000264037.2:p.Glu991Asp | |
| ENST00000392793.5:c.2973G>T (TECTA) | ENSP00000376543.1:p.Glu991Asp | |
| NM_005422.2:c.2973G>T (TECTA) | NP_005413.2:p.Glu991Asp | |
| NM_001378761.1:c.3930G>T (TBCEL-TECTA) | NP_001365690.1:p.Glu1310Asp | |
| NM_005422.4:c.2973G>T (TECTA) MANE Select | NP_005413.2:p.Glu991Asp |