Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121125607C>T , CM000673.2:g.121125607C>T | GRCh38 |
| NC_000011.9:g.120996316C>T , CM000673.1:g.120996316C>T | GRCh37 |
| NC_000011.8:g.120501526C>T | NCBI36 |
| NG_011633.1:g.27942C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005422.4:c.1509C>T (TECTA) MANE Select | NP_005413.2:p.Cys503= |
| ENST00000392793.6:c.1509C>T (TECTA) MANE Select | ENSP00000376543.1:p.Cys503= |
| NM_001378761.1:c.2466C>T (TBCEL-TECTA) | NP_001365690.1:p.Cys822= |
| NM_005422.2:c.1509C>T (TECTA) | NP_005413.2:p.Cys503= |
| ENST00000264037.2:c.1509C>T (TECTA) | ENSP00000264037.2:p.Cys503= |
| ENST00000392793.5:c.1509C>T (TECTA) | ENSP00000376543.1:p.Cys503= |
| ENST00000642222.1:c.1509C>T (TECTA) | ENSP00000493855.1:p.Cys503= |