Linked Data
ClinVar Variation Id:
402279
ClinVar RCV Id:
RCV000454140
dbSNP Id:
rs764153521
gnomAD v4:
11-121160302-C-A
COSMIC:
COSM924025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121160302C>A , CM000673.2:g.121160302C>A | GRCh38 |
| NC_000011.9:g.121031011C>A , CM000673.1:g.121031011C>A | GRCh37 |
| NC_000011.8:g.120536221C>A | NCBI36 |
| NG_011633.1:g.62637C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4857C>A (TECTA) MANE Select | ENSP00000376543.1:p.Cys1619Ter | |
| ENST00000642222.1:c.4857C>A (TECTA) | ENSP00000493855.1:p.Cys1619Ter | |
| ENST00000645008.1:c.2164C>A (TECTA) | ||
| ENST00000646278.1:n.793C>A (TECTA) | ||
| ENST00000264037.2:c.4857C>A (TECTA) | ENSP00000264037.2:p.Cys1619Ter | |
| ENST00000392793.5:c.4857C>A (TECTA) | ENSP00000376543.1:p.Cys1619Ter | |
| NM_005422.2:c.4857C>A (TECTA) | NP_005413.2:p.Cys1619Ter | |
| NM_001378761.1:c.5814C>A (TBCEL-TECTA) | NP_001365690.1:p.Cys1938Ter | |
| NM_005422.4:c.4857C>A (TECTA) MANE Select | NP_005413.2:p.Cys1619Ter |