Linked Data
ClinVar Variation Id:
2996008
ClinVar RCV Id:
RCV003854095
dbSNP Id:
rs531328247
ExAC:
11:121016433 A / G
gnomAD v2:
11-121016433-A-G
gnomAD v3:
11-121145724-A-G
gnomAD v4:
11-121145724-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145724A>G , CM000673.2:g.121145724A>G | GRCh38 |
| NC_000011.9:g.121016433A>G , CM000673.1:g.121016433A>G | GRCh37 |
| NC_000011.8:g.120521643A>G | NCBI36 |
| NG_011633.1:g.48059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3713A>G (TECTA) MANE Select | ENSP00000376543.1:p.Tyr1238Cys | |
| ENST00000642222.1:c.3713A>G (TECTA) | ENSP00000493855.1:p.Tyr1238Cys | |
| ENST00000645008.1:c.1020A>G (TECTA) | ||
| ENST00000264037.2:c.3713A>G (TECTA) | ENSP00000264037.2:p.Tyr1238Cys | |
| ENST00000392793.5:c.3713A>G (TECTA) | ENSP00000376543.1:p.Tyr1238Cys | |
| ENST00000478058.1:n.278A>G (TECTA) | ||
| NM_005422.2:c.3713A>G (TECTA) | NP_005413.2:p.Tyr1238Cys | |
| NM_001378761.1:c.4670A>G (TBCEL-TECTA) | NP_001365690.1:p.Tyr1557Cys | |
| NM_005422.4:c.3713A>G (TECTA) MANE Select | NP_005413.2:p.Tyr1238Cys |