Linked Data
ClinVar Variation Id:
1178462
ClinVar RCV Id:
RCV001534750
dbSNP Id:
rs754213928
ExAC:
11:121036081 C / G
gnomAD v2:
11-121036081-C-G
gnomAD v3:
11-121165372-C-G
gnomAD v4:
11-121165372-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121165372C>G , CM000673.2:g.121165372C>G | GRCh38 |
| NC_000011.9:g.121036081C>G , CM000673.1:g.121036081C>G | GRCh37 |
| NC_000011.8:g.120541291C>G | NCBI36 |
| NG_011633.1:g.67707C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5372C>G (TECTA) MANE Select | ENSP00000376543.1:p.Pro1791Arg | |
| ENST00000642222.1:c.5357C>G (TECTA) | ENSP00000493855.1:p.Pro1786Arg | |
| ENST00000645008.1:c.2664C>G (TECTA) | ||
| ENST00000646278.1:n.1293C>G (TECTA) | ||
| ENST00000264037.2:c.5372C>G (TECTA) | ENSP00000264037.2:p.Pro1791Arg | |
| ENST00000392793.5:c.5372C>G (TECTA) | ENSP00000376543.1:p.Pro1791Arg | |
| NM_005422.2:c.5372C>G (TECTA) | NP_005413.2:p.Pro1791Arg | |
| NM_001378761.1:c.6314C>G (TBCEL-TECTA) | NP_001365690.1:p.Pro2105Arg | |
| NM_005422.4:c.5372C>G (TECTA) MANE Select | NP_005413.2:p.Pro1791Arg |