Linked Data
ClinVar Variation Id:
1543539
ClinVar RCV Id:
RCV002170200
dbSNP Id:
rs1000187632
gnomAD v2:
11-121016623-C-T
gnomAD v3:
11-121145914-C-T
gnomAD v4:
11-121145914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145914C>T , CM000673.2:g.121145914C>T | GRCh38 |
| NC_000011.9:g.121016623C>T , CM000673.1:g.121016623C>T | GRCh37 |
| NC_000011.8:g.120521833C>T | NCBI36 |
| NG_011633.1:g.48249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3903C>T (TECTA) MANE Select | ENSP00000376543.1:p.Cys1301= | |
| ENST00000642222.1:c.3903C>T (TECTA) | ENSP00000493855.1:p.Cys1301= | |
| ENST00000645008.1:c.1210C>T (TECTA) | ||
| ENST00000264037.2:c.3903C>T (TECTA) | ENSP00000264037.2:p.Cys1301= | |
| ENST00000392793.5:c.3903C>T (TECTA) | ENSP00000376543.1:p.Cys1301= | |
| ENST00000478058.1:n.468C>T (TECTA) | ||
| NM_005422.2:c.3903C>T (TECTA) | NP_005413.2:p.Cys1301= | |
| NM_001378761.1:c.4860C>T (TBCEL-TECTA) | NP_001365690.1:p.Cys1620= | |
| NM_005422.4:c.3903C>T (TECTA) MANE Select | NP_005413.2:p.Cys1301= |