Linked Data
ClinVar Variation Id:
2792701
ClinVar RCV Id:
RCV003667398
dbSNP Id:
rs1247677993
gnomAD v4:
11-121162322-C-T
COSMIC:
COSM4643513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121162322C>T , CM000673.2:g.121162322C>T | GRCh38 |
| NC_000011.9:g.121033031C>T , CM000673.1:g.121033031C>T | GRCh37 |
| NC_000011.8:g.120538241C>T | NCBI36 |
| NG_011633.1:g.64657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5224C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1742Cys | |
| ENST00000642222.1:c.5209C>T (TECTA) | ENSP00000493855.1:p.Arg1737Cys | |
| ENST00000645008.1:c.2516C>T (TECTA) | ||
| ENST00000646278.1:n.1145C>T (TECTA) | ||
| ENST00000264037.2:c.5224C>T (TECTA) | ENSP00000264037.2:p.Arg1742Cys | |
| ENST00000392793.5:c.5224C>T (TECTA) | ENSP00000376543.1:p.Arg1742Cys | |
| NM_005422.2:c.5224C>T (TECTA) | NP_005413.2:p.Arg1742Cys | |
| NM_001378761.1:c.6166C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg2056Cys | |
| NM_005422.4:c.5224C>T (TECTA) MANE Select | NP_005413.2:p.Arg1742Cys |