Linked Data
ClinVar Variation Id:
165370
dbSNP Id:
rs144343770
ExAC:
11:121039471 T / C
gnomAD v2:
11-121039471-T-C
gnomAD v3:
11-121168762-T-C
gnomAD v4:
11-121168762-T-C
ERepo:
CA178113/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168762T>C , CM000673.2:g.121168762T>C | GRCh38 |
| NC_000011.9:g.121039471T>C , CM000673.1:g.121039471T>C | GRCh37 |
| NC_000011.8:g.120544681T>C | NCBI36 |
| NG_011633.1:g.71097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5836T>C (TECTA) MANE Select | ENSP00000376543.1:p.Tyr1946His | |
| ENST00000642222.1:c.5821T>C (TECTA) | ENSP00000493855.1:p.Tyr1941His | |
| ENST00000645008.1:c.3128T>C (TECTA) | ||
| ENST00000646278.1:n.2216T>C (TECTA) | ||
| ENST00000264037.2:c.5836T>C (TECTA) | ENSP00000264037.2:p.Tyr1946His | |
| ENST00000392793.5:c.5836T>C (TECTA) | ENSP00000376543.1:p.Tyr1946His | |
| NM_005422.2:c.5836T>C (TECTA) | NP_005413.2:p.Tyr1946His | |
| NM_001378761.1:c.6778T>C (TBCEL-TECTA) | NP_001365690.1:p.Tyr2260His | |
| NM_005422.4:c.5836T>C (TECTA) MANE Select | NP_005413.2:p.Tyr1946His |