Linked Data
ClinVar Variation Id:
7023
ClinVar RCV Id:
RCV000007438
dbSNP Id:
rs121909061
PubMed:
PMID:17661817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121166703T>C , CM000673.2:g.121166703T>C | GRCh38 |
| NC_000011.9:g.121037412T>C , CM000673.1:g.121037412T>C | GRCh37 |
| NC_000011.8:g.120542622T>C | NCBI36 |
| NG_011633.1:g.69038T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.5509T>C (TECTA) MANE Select | ENSP00000376543.1:p.Cys1837Arg | |
| ENST00000642222.1:c.5494T>C (TECTA) | ENSP00000493855.1:p.Cys1832Arg | |
| ENST00000645008.1:c.2801T>C (TECTA) | ||
| ENST00000646278.1:n.1430T>C (TECTA) | ||
| ENST00000264037.2:c.5509T>C (TECTA) | ENSP00000264037.2:p.Cys1837Arg | |
| ENST00000392793.5:c.5509T>C (TECTA) | ENSP00000376543.1:p.Cys1837Arg | |
| NM_005422.2:c.5509T>C (TECTA) | NP_005413.2:p.Cys1837Arg | |
| NM_001378761.1:c.6451T>C (TBCEL-TECTA) | NP_001365690.1:p.Cys2151Arg | |
| NM_005422.4:c.5509T>C (TECTA) MANE Select | NP_005413.2:p.Cys1837Arg |