Linked Data
ClinVar Variation Id:
303010
dbSNP Id:
rs371290564
ExAC:
11:121000814 G / A
gnomAD v2:
11-121000814-G-A
gnomAD v3:
11-121130105-G-A
gnomAD v4:
11-121130105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121130105G>A , CM000673.2:g.121130105G>A | GRCh38 |
| NC_000011.9:g.121000814G>A , CM000673.1:g.121000814G>A | GRCh37 |
| NC_000011.8:g.120506024G>A | NCBI36 |
| NG_011633.1:g.32440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2835G>A (TECTA) MANE Select | ENSP00000376543.1:p.Gln945= | |
| ENST00000642222.1:c.2835G>A (TECTA) | ENSP00000493855.1:p.Gln945= | |
| ENST00000645008.1:c.142G>A (TECTA) | ||
| ENST00000264037.2:c.2835G>A (TECTA) | ENSP00000264037.2:p.Gln945= | |
| ENST00000392793.5:c.2835G>A (TECTA) | ENSP00000376543.1:p.Gln945= | |
| NM_005422.2:c.2835G>A (TECTA) | NP_005413.2:p.Gln945= | |
| NM_001378761.1:c.3792G>A (TBCEL-TECTA) | NP_001365690.1:p.Gln1264= | |
| NM_005422.4:c.2835G>A (TECTA) MANE Select | NP_005413.2:p.Gln945= |