Linked Data
ClinVar Variation Id:
229295
dbSNP Id:
rs143315827
ExAC:
11:121000617 A / G
gnomAD v2:
11-121000617-A-G
gnomAD v3:
11-121129908-A-G
gnomAD v4:
11-121129908-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121129908A>G , CM000673.2:g.121129908A>G | GRCh38 |
| NC_000011.9:g.121000617A>G , CM000673.1:g.121000617A>G | GRCh37 |
| NC_000011.8:g.120505827A>G | NCBI36 |
| NG_011633.1:g.32243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2638A>G (TECTA) MANE Select | ENSP00000376543.1:p.Thr880Ala | |
| ENST00000642222.1:c.2638A>G (TECTA) | ENSP00000493855.1:p.Thr880Ala | |
| ENST00000264037.2:c.2638A>G (TECTA) | ENSP00000264037.2:p.Thr880Ala | |
| ENST00000392793.5:c.2638A>G (TECTA) | ENSP00000376543.1:p.Thr880Ala | |
| NM_005422.2:c.2638A>G (TECTA) | NP_005413.2:p.Thr880Ala | |
| NM_001378761.1:c.3595A>G (TBCEL-TECTA) | NP_001365690.1:p.Thr1199Ala | |
| NM_005422.4:c.2638A>G (TECTA) MANE Select | NP_005413.2:p.Thr880Ala |