Linked Data
ClinVar Variation Id:
7014
ClinVar RCV Id:
RCV000007429
dbSNP Id:
rs121909058
PubMed:
PMID:9590290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168076A>G , CM000673.2:g.121168076A>G | GRCh38 |
| NC_000011.9:g.121038785A>G , CM000673.1:g.121038785A>G | GRCh37 |
| NC_000011.8:g.120543995A>G | NCBI36 |
| NG_011633.1:g.70411A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.5609A>G (TECTA) MANE Select | ENSP00000376543.1:p.Tyr1870Cys | |
| ENST00000642222.1:c.5594A>G (TECTA) | ENSP00000493855.1:p.Tyr1865Cys | |
| ENST00000645008.1:c.2901A>G (TECTA) | ||
| ENST00000646278.1:n.1530A>G (TECTA) | ||
| ENST00000264037.2:c.5609A>G (TECTA) | ENSP00000264037.2:p.Tyr1870Cys | |
| ENST00000392793.5:c.5609A>G (TECTA) | ENSP00000376543.1:p.Tyr1870Cys | |
| NM_005422.2:c.5609A>G (TECTA) | NP_005413.2:p.Tyr1870Cys | |
| NM_001378761.1:c.6551A>G (TBCEL-TECTA) | NP_001365690.1:p.Tyr2184Cys | |
| NM_005422.4:c.5609A>G (TECTA) MANE Select | NP_005413.2:p.Tyr1870Cys |