Linked Data
ClinVar Variation Id:
2419317
dbSNP Id:
rs371138718
ExAC:
11:121030840 A / G
gnomAD v4:
11-121160131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121160131A>G , CM000673.2:g.121160131A>G | GRCh38 |
| NC_000011.9:g.121030840A>G , CM000673.1:g.121030840A>G | GRCh37 |
| NC_000011.8:g.120536050A>G | NCBI36 |
| NG_011633.1:g.62466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4690-4A>G (TECTA) MANE Select | ENSP00000376543.1:n.4690-4A>G | |
| ENST00000642222.1:c.4690-4A>G (TECTA) | ENSP00000493855.1:n.4690-4A>G | |
| ENST00000645008.1:c.1997-4A>G (TECTA) | ||
| ENST00000646278.1:n.626-4A>G (TECTA) | ||
| ENST00000264037.2:c.4690-4A>G (TECTA) | ENSP00000264037.2:n.4690-4A>G | |
| ENST00000392793.5:c.4690-4A>G (TECTA) | ENSP00000376543.1:n.4690-4A>G | |
| NM_005422.2:c.4690-4A>G (TECTA) | NP_005413.2:n.4690-4A>G | |
| NM_001378761.1:c.5647-4A>G (TBCEL-TECTA) | NP_001365690.1:n.5647-4A>G | |
| NM_005422.4:c.4690-4A>G (TECTA) MANE Select | NP_005413.2:n.4690-4A>G |