Linked Data
ClinVar Variation Id:
3175670
ClinVar RCV Id:
RCV004469479
dbSNP Id:
rs765048098
ExAC:
11:121016637 A / T
gnomAD v2:
11-121016637-A-T
gnomAD v4:
11-121145928-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145928A>T , CM000673.2:g.121145928A>T | GRCh38 |
| NC_000011.9:g.121016637A>T , CM000673.1:g.121016637A>T | GRCh37 |
| NC_000011.8:g.120521847A>T | NCBI36 |
| NG_011633.1:g.48263A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3917A>T (TECTA) MANE Select | ENSP00000376543.1:p.Asn1306Ile | |
| ENST00000642222.1:c.3917A>T (TECTA) | ENSP00000493855.1:p.Asn1306Ile | |
| ENST00000645008.1:c.1224A>T (TECTA) | ||
| ENST00000264037.2:c.3917A>T (TECTA) | ENSP00000264037.2:p.Asn1306Ile | |
| ENST00000392793.5:c.3917A>T (TECTA) | ENSP00000376543.1:p.Asn1306Ile | |
| ENST00000478058.1:n.482A>T (TECTA) | ||
| NM_005422.2:c.3917A>T (TECTA) | NP_005413.2:p.Asn1306Ile | |
| NM_001378761.1:c.4874A>T (TBCEL-TECTA) | NP_001365690.1:p.Asn1625Ile | |
| NM_005422.4:c.3917A>T (TECTA) MANE Select | NP_005413.2:p.Asn1306Ile |