Linked Data
ClinVar Variation Id:
7017
ClinVar RCV Id:
RCV000007432
dbSNP Id:
rs121909060
PubMed:
PMID:10196713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121160301G>C , CM000673.2:g.121160301G>C | GRCh38 |
| NC_000011.9:g.121031010G>C , CM000673.1:g.121031010G>C | GRCh37 |
| NC_000011.8:g.120536220G>C | NCBI36 |
| NG_011633.1:g.62636G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.4856G>C (TECTA) MANE Select | ENSP00000376543.1:p.Cys1619Ser | |
| ENST00000642222.1:c.4856G>C (TECTA) | ENSP00000493855.1:p.Cys1619Ser | |
| ENST00000645008.1:c.2163G>C (TECTA) | ||
| ENST00000646278.1:n.792G>C (TECTA) | ||
| ENST00000264037.2:c.4856G>C (TECTA) | ENSP00000264037.2:p.Cys1619Ser | |
| ENST00000392793.5:c.4856G>C (TECTA) | ENSP00000376543.1:p.Cys1619Ser | |
| NM_005422.2:c.4856G>C (TECTA) | NP_005413.2:p.Cys1619Ser | |
| NM_001378761.1:c.5813G>C (TBCEL-TECTA) | NP_001365690.1:p.Cys1938Ser | |
| NM_005422.4:c.4856G>C (TECTA) MANE Select | NP_005413.2:p.Cys1619Ser |