Linked Data
ClinVar Variation Id:
7016
ClinVar RCV Id:
RCV000007431
dbSNP Id:
rs121909059
ExAC:
11:121008357 T / A
gnomAD v2:
11-121008357-T-A
gnomAD v4:
11-121137648-T-A
PubMed:
PMID:10987647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137648T>A , CM000673.2:g.121137648T>A | GRCh38 |
| NC_000011.9:g.121008357T>A , CM000673.1:g.121008357T>A | GRCh37 |
| NC_000011.8:g.120513567T>A | NCBI36 |
| NG_011633.1:g.39983T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.3169T>A (TECTA) MANE Select | ENSP00000376543.1:p.Cys1057Ser | |
| ENST00000642222.1:c.3169T>A (TECTA) | ENSP00000493855.1:p.Cys1057Ser | |
| ENST00000645008.1:c.476T>A (TECTA) | ||
| ENST00000264037.2:c.3169T>A (TECTA) | ENSP00000264037.2:p.Cys1057Ser | |
| ENST00000392793.5:c.3169T>A (TECTA) | ENSP00000376543.1:p.Cys1057Ser | |
| NM_005422.2:c.3169T>A (TECTA) | NP_005413.2:p.Cys1057Ser | |
| NM_001378761.1:c.4126T>A (TBCEL-TECTA) | NP_001365690.1:p.Cys1376Ser | |
| NM_005422.4:c.3169T>A (TECTA) MANE Select | NP_005413.2:p.Cys1057Ser |