Linked Data
ClinVar Variation Id:
1530085
ClinVar RCV Id:
RCV002089538
dbSNP Id:
rs779707919
ExAC:
11:120979931 C / T
gnomAD v2:
11-120979931-C-T
gnomAD v3:
11-121109222-C-T
gnomAD v4:
11-121109222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121109222C>T , CM000673.2:g.121109222C>T | GRCh38 |
| NC_000011.9:g.120979931C>T , CM000673.1:g.120979931C>T | GRCh37 |
| NC_000011.8:g.120485141C>T | NCBI36 |
| NG_011633.1:g.11557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.210C>T (TECTA) MANE Select | ENSP00000376543.1:p.Asn70= | |
| ENST00000642222.1:c.210C>T (TECTA) | ENSP00000493855.1:p.Asn70= | |
| ENST00000644541.1:n.1351C>T (TBCEL-TECTA) | ||
| ENST00000645041.1:c.1119C>T (TBCEL-TECTA) | ENSP00000496315.1:p.Asn373= | |
| ENST00000264037.2:c.210C>T (TECTA) | ENSP00000264037.2:p.Asn70= | |
| ENST00000392793.5:c.210C>T (TECTA) | ENSP00000376543.1:p.Asn70= | |
| NM_005422.2:c.210C>T (TECTA) | NP_005413.2:p.Asn70= | |
| NM_001378761.1:c.1167C>T (TBCEL-TECTA) | NP_001365690.1:p.Asn389= | |
| NM_005422.4:c.210C>T (TECTA) MANE Select | NP_005413.2:p.Asn70= |