Linked Data
ClinVar Variation Id:
429887
dbSNP Id:
rs148440178
ExAC:
11:121016781 C / T
gnomAD v2:
11-121016781-C-T
gnomAD v3:
11-121146072-C-T
gnomAD v4:
11-121146072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121146072C>T , CM000673.2:g.121146072C>T | GRCh38 |
| NC_000011.9:g.121016781C>T , CM000673.1:g.121016781C>T | GRCh37 |
| NC_000011.8:g.120521991C>T | NCBI36 |
| NG_011633.1:g.48407C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.4061C>T (TECTA) MANE Select | ENSP00000376543.1:p.Thr1354Ile | |
| ENST00000642222.1:c.4061C>T (TECTA) | ENSP00000493855.1:p.Thr1354Ile | |
| ENST00000645008.1:c.1368C>T (TECTA) | ||
| ENST00000264037.2:c.4061C>T (TECTA) | ENSP00000264037.2:p.Thr1354Ile | |
| ENST00000392793.5:c.4061C>T (TECTA) | ENSP00000376543.1:p.Thr1354Ile | |
| ENST00000478058.1:n.626C>T (TECTA) | ||
| NM_005422.2:c.4061C>T (TECTA) | NP_005413.2:p.Thr1354Ile | |
| NM_001378761.1:c.5018C>T (TBCEL-TECTA) | NP_001365690.1:p.Thr1673Ile | |
| NM_005422.4:c.4061C>T (TECTA) MANE Select | NP_005413.2:p.Thr1354Ile |