Linked Data
ClinVar Variation Id:
1710866
ClinVar RCV Id:
RCV002292153
dbSNP Id:
rs769559125
ExAC:
11:121033055 G / C
gnomAD v2:
11-121033055-G-C
gnomAD v3:
11-121162346-G-C
gnomAD v4:
11-121162346-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121162346G>C , CM000673.2:g.121162346G>C | GRCh38 |
| NC_000011.9:g.121033055G>C , CM000673.1:g.121033055G>C | GRCh37 |
| NC_000011.8:g.120538265G>C | NCBI36 |
| NG_011633.1:g.64681G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5248G>C (TECTA) MANE Select | ENSP00000376543.1:p.Glu1750Gln | |
| ENST00000642222.1:c.5233G>C (TECTA) | ENSP00000493855.1:p.Glu1745Gln | |
| ENST00000645008.1:c.2540G>C (TECTA) | ||
| ENST00000646278.1:n.1169G>C (TECTA) | ||
| ENST00000264037.2:c.5248G>C (TECTA) | ENSP00000264037.2:p.Glu1750Gln | |
| ENST00000392793.5:c.5248G>C (TECTA) | ENSP00000376543.1:p.Glu1750Gln | |
| NM_005422.2:c.5248G>C (TECTA) | NP_005413.2:p.Glu1750Gln | |
| NM_001378761.1:c.6190G>C (TBCEL-TECTA) | NP_001365690.1:p.Glu2064Gln | |
| NM_005422.4:c.5248G>C (TECTA) MANE Select | NP_005413.2:p.Glu1750Gln |