Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137565A= , CM000673.2:g.121137565A= | GRCh38 |
| NC_000011.9:g.121008274A= , CM000673.1:g.121008274A= | GRCh37 |
| NC_000011.8:g.120513484A= | NCBI36 |
| NG_011633.1:g.39900A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3086A= (TECTA) MANE Select | ENSP00000376543.1:p.Gln1029= | |
| ENST00000642222.1:c.3086A= (TECTA) | ENSP00000493855.1:p.Gln1029= | |
| ENST00000645008.1:c.393A= (TECTA) | ||
| ENST00000264037.2:c.3086A= (TECTA) | ENSP00000264037.2:p.Gln1029= | |
| ENST00000392793.5:c.3086A= (TECTA) | ENSP00000376543.1:p.Gln1029= | |
| NM_005422.2:c.3086A= (TECTA) | NP_005413.2:p.Gln1029= | |
| NM_001378761.1:c.4043A= (TBCEL-TECTA) | NP_001365690.1:p.Gln1348= | |
| NM_005422.4:c.3086A= (TECTA) MANE Select | NP_005413.2:p.Gln1029= |