Linked Data
ClinVar Variation Id:
178538
dbSNP Id:
rs142486386
ExAC:
11:121008285 C / T
gnomAD v2:
11-121008285-C-T
gnomAD v3:
11-121137576-C-T
gnomAD v4:
11-121137576-C-T
ERepo:
CA182517/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137576C>T , CM000673.2:g.121137576C>T | GRCh38 |
| NC_000011.9:g.121008285C>T , CM000673.1:g.121008285C>T | GRCh37 |
| NC_000011.8:g.120513495C>T | NCBI36 |
| NG_011633.1:g.39911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3097C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1033Trp | |
| ENST00000642222.1:c.3097C>T (TECTA) | ENSP00000493855.1:p.Arg1033Trp | |
| ENST00000645008.1:c.404C>T (TECTA) | ||
| ENST00000264037.2:c.3097C>T (TECTA) | ENSP00000264037.2:p.Arg1033Trp | |
| ENST00000392793.5:c.3097C>T (TECTA) | ENSP00000376543.1:p.Arg1033Trp | |
| NM_005422.2:c.3097C>T (TECTA) | NP_005413.2:p.Arg1033Trp | |
| NM_001378761.1:c.4054C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg1352Trp | |
| NM_005422.4:c.3097C>T (TECTA) MANE Select | NP_005413.2:p.Arg1033Trp |