Linked Data
ClinVar Variation Id:
7022
dbSNP Id:
rs121909063
gnomAD v4:
11-121168135-C-T
COSMIC:
COSM1351982
PubMed:
PMID:16718611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168135C>T , CM000673.2:g.121168135C>T | GRCh38 |
| NC_000011.9:g.121038844C>T , CM000673.1:g.121038844C>T | GRCh37 |
| NC_000011.8:g.120544054C>T | NCBI36 |
| NG_011633.1:g.70470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5668C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1890Cys | |
| ENST00000642222.1:c.5653C>T (TECTA) | ENSP00000493855.1:p.Arg1885Cys | |
| ENST00000645008.1:c.2960C>T (TECTA) | ||
| ENST00000646278.1:n.1589C>T (TECTA) | ||
| ENST00000264037.2:c.5668C>T (TECTA) | ENSP00000264037.2:p.Arg1890Cys | |
| ENST00000392793.5:c.5668C>T (TECTA) | ENSP00000376543.1:p.Arg1890Cys | |
| NM_005422.2:c.5668C>T (TECTA) | NP_005413.2:p.Arg1890Cys | |
| NM_001378761.1:c.6610C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg2204Cys | |
| NM_005422.4:c.5668C>T (TECTA) MANE Select | NP_005413.2:p.Arg1890Cys |