Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137599T= , CM000673.2:g.121137599T= | GRCh38 |
| NC_000011.9:g.121008308T= , CM000673.1:g.121008308T= | GRCh37 |
| NC_000011.8:g.120513518T= | NCBI36 |
| NG_011633.1:g.39934T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3120T= (TECTA) MANE Select | ENSP00000376543.1:p.Phe1040= | |
| ENST00000642222.1:c.3120T= (TECTA) | ENSP00000493855.1:p.Phe1040= | |
| ENST00000645008.1:c.427T= (TECTA) | ||
| ENST00000264037.2:c.3120T= (TECTA) | ENSP00000264037.2:p.Phe1040= | |
| ENST00000392793.5:c.3120T= (TECTA) | ENSP00000376543.1:p.Phe1040= | |
| NM_005422.2:c.3120T= (TECTA) | NP_005413.2:p.Phe1040= | |
| NM_001378761.1:c.4077T= (TBCEL-TECTA) | NP_001365690.1:p.Phe1359= | |
| NM_005422.4:c.3120T= (TECTA) MANE Select | NP_005413.2:p.Phe1040= |