Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121118658C>G , CM000673.2:g.121118658C>G | GRCh38 |
| NC_000011.9:g.120989367C>G , CM000673.1:g.120989367C>G | GRCh37 |
| NC_000011.8:g.120494577C>G | NCBI36 |
| NG_011633.1:g.20993C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005422.4:c.1143C>G (TECTA) MANE Select | NP_005413.2:p.Leu381= |
| ENST00000392793.6:c.1143C>G (TECTA) MANE Select | ENSP00000376543.1:p.Leu381= |
| NM_001378761.1:c.2100C>G (TBCEL-TECTA) | NP_001365690.1:p.Leu700= |
| NM_005422.2:c.1143C>G (TECTA) | NP_005413.2:p.Leu381= |
| ENST00000264037.2:c.1143C>G (TECTA) | ENSP00000264037.2:p.Leu381= |
| ENST00000392793.5:c.1143C>G (TECTA) | ENSP00000376543.1:p.Leu381= |
| ENST00000642222.1:c.1143C>G (TECTA) | ENSP00000493855.1:p.Leu381= |