Linked Data
ClinVar Variation Id:
229304
dbSNP Id:
rs368627411
ExAC:
11:120983774 C / G
gnomAD v2:
11-120983774-C-G
gnomAD v3:
11-121113065-C-G
gnomAD v4:
11-121113065-C-G
ERepo:
CA6326508/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121113065C>G , CM000673.2:g.121113065C>G | GRCh38 |
| NC_000011.9:g.120983774C>G , CM000673.1:g.120983774C>G | GRCh37 |
| NC_000011.8:g.120488984C>G | NCBI36 |
| NG_011633.1:g.15400C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.487-7C>G (TECTA) MANE Select | ENSP00000376543.1:n.487-7C>G | |
| ENST00000642222.1:c.487-7C>G (TECTA) | ENSP00000493855.1:n.487-7C>G | |
| ENST00000645041.1:c.1396-7C>G (TBCEL-TECTA) | ENSP00000496315.1:n.1396-7C>G | |
| ENST00000264037.2:c.487-7C>G (TECTA) | ENSP00000264037.2:n.487-7C>G | |
| ENST00000392793.5:c.487-7C>G (TECTA) | ENSP00000376543.1:n.487-7C>G | |
| NM_005422.2:c.487-7C>G (TECTA) | NP_005413.2:n.487-7C>G | |
| NM_001378761.1:c.1444-7C>G (TBCEL-TECTA) | NP_001365690.1:n.1444-7C>G | |
| NM_005422.4:c.487-7C>G (TECTA) MANE Select | NP_005413.2:n.487-7C>G |