Linked Data
ClinVar Variation Id:
236058
dbSNP Id:
rs140236996
ExAC:
11:121038773 C / T
gnomAD v2:
11-121038773-C-T
gnomAD v3:
11-121168064-C-T
gnomAD v4:
11-121168064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168064C>T , CM000673.2:g.121168064C>T | GRCh38 |
| NC_000011.9:g.121038773C>T , CM000673.1:g.121038773C>T | GRCh37 |
| NC_000011.8:g.120543983C>T | NCBI36 |
| NG_011633.1:g.70399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5597C>T (TECTA) MANE Select | ENSP00000376543.1:p.Thr1866Met | |
| ENST00000642222.1:c.5582C>T (TECTA) | ENSP00000493855.1:p.Thr1861Met | |
| ENST00000645008.1:c.2889C>T (TECTA) | ||
| ENST00000646278.1:n.1518C>T (TECTA) | ||
| ENST00000264037.2:c.5597C>T (TECTA) | ENSP00000264037.2:p.Thr1866Met | |
| ENST00000392793.5:c.5597C>T (TECTA) | ENSP00000376543.1:p.Thr1866Met | |
| NM_005422.2:c.5597C>T (TECTA) | NP_005413.2:p.Thr1866Met | |
| NM_001378761.1:c.6539C>T (TBCEL-TECTA) | NP_001365690.1:p.Thr2180Met | |
| NM_005422.4:c.5597C>T (TECTA) MANE Select | NP_005413.2:p.Thr1866Met |