Linked Data
ClinVar Variation Id:
988546
ClinVar RCV Id:
RCV001269970
dbSNP Id:
rs773854426
ExAC:
11:121036026 C / T
gnomAD v2:
11-121036026-C-T
gnomAD v3:
11-121165317-C-T
gnomAD v4:
11-121165317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121165317C>T , CM000673.2:g.121165317C>T | GRCh38 |
| NC_000011.9:g.121036026C>T , CM000673.1:g.121036026C>T | GRCh37 |
| NC_000011.8:g.120541236C>T | NCBI36 |
| NG_011633.1:g.67652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5317C>T (TECTA) MANE Select | ENSP00000376543.1:p.Arg1773Ter | |
| ENST00000642222.1:c.5302C>T (TECTA) | ENSP00000493855.1:p.Arg1768Ter | |
| ENST00000645008.1:c.2609C>T (TECTA) | ||
| ENST00000646278.1:n.1238C>T (TECTA) | ||
| ENST00000264037.2:c.5317C>T (TECTA) | ENSP00000264037.2:p.Arg1773Ter | |
| ENST00000392793.5:c.5317C>T (TECTA) | ENSP00000376543.1:p.Arg1773Ter | |
| NM_005422.2:c.5317C>T (TECTA) | NP_005413.2:p.Arg1773Ter | |
| NM_001378761.1:c.6259C>T (TBCEL-TECTA) | NP_001365690.1:p.Arg2087Ter | |
| NM_005422.4:c.5317C>T (TECTA) MANE Select | NP_005413.2:p.Arg1773Ter |