Linked Data
ClinVar Variation Id:
520766
ClinVar RCV Id:
RCV000622413
dbSNP Id:
rs143748991
ExAC:
11:121039625 T / C
gnomAD v2:
11-121039625-T-C
gnomAD v3:
11-121168916-T-C
gnomAD v4:
11-121168916-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168916T>C , CM000673.2:g.121168916T>C | GRCh38 |
| NC_000011.9:g.121039625T>C , CM000673.1:g.121039625T>C | GRCh37 |
| NC_000011.8:g.120544835T>C | NCBI36 |
| NG_011633.1:g.71251T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5990T>C (TECTA) MANE Select | ENSP00000376543.1:p.Ile1997Thr | |
| ENST00000642222.1:c.5975T>C (TECTA) | ENSP00000493855.1:p.Ile1992Thr | |
| ENST00000645008.1:c.3282T>C (TECTA) | ||
| ENST00000646278.1:n.2370T>C (TECTA) | ||
| ENST00000264037.2:c.5990T>C (TECTA) | ENSP00000264037.2:p.Ile1997Thr | |
| ENST00000392793.5:c.5990T>C (TECTA) | ENSP00000376543.1:p.Ile1997Thr | |
| NM_005422.2:c.5990T>C (TECTA) | NP_005413.2:p.Ile1997Thr | |
| NM_001378761.1:c.6932T>C (TBCEL-TECTA) | NP_001365690.1:p.Ile2311Thr | |
| NM_005422.4:c.5990T>C (TECTA) MANE Select | NP_005413.2:p.Ile1997Thr |