Linked Data
ClinVar Variation Id:
449555
dbSNP Id:
rs1428598791
gnomAD v2:
11-121039474-C-T
gnomAD v3:
11-121168765-C-T
gnomAD v4:
11-121168765-C-T
PubMed:
PMID:21520338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168765C>T , CM000673.2:g.121168765C>T | GRCh38 |
| NC_000011.9:g.121039474C>T , CM000673.1:g.121039474C>T | GRCh37 |
| NC_000011.8:g.120544684C>T | NCBI36 |
| NG_011633.1:g.71100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5839C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1947Cys | |
| ENST00000642222.1:c.5824C>T (TECTA) | ENSP00000493855.1:p.Arg1942Cys | |
| ENST00000645008.1:c.3131C>T (TECTA) | ||
| ENST00000646278.1:n.2219C>T (TECTA) | ||
| ENST00000264037.2:c.5839C>T (TECTA) | ENSP00000264037.2:p.Arg1947Cys | |
| ENST00000392793.5:c.5839C>T (TECTA) | ENSP00000376543.1:p.Arg1947Cys | |
| NM_005422.2:c.5839C>T (TECTA) | NP_005413.2:p.Arg1947Cys | |
| NM_001378761.1:c.6781C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg2261Cys | |
| NM_005422.4:c.5839C>T (TECTA) MANE Select | NP_005413.2:p.Arg1947Cys |