Linked Data
dbSNP Id:
rs1277409129
gnomAD v3:
11-121137450-G-C
gnomAD v4:
11-121137450-G-C
COSMIC:
COSM6014712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137450G>C , CM000673.2:g.121137450G>C | GRCh38 |
| NC_000011.9:g.121008159G>C , CM000673.1:g.121008159G>C | GRCh37 |
| NC_000011.8:g.120513369G>C | NCBI36 |
| NG_011633.1:g.39785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2971G>C (TECTA) MANE Select | ENSP00000376543.1:p.Glu991Gln | |
| ENST00000642222.1:c.2971G>C (TECTA) | ENSP00000493855.1:p.Glu991Gln | |
| ENST00000645008.1:c.278G>C (TECTA) | ||
| ENST00000264037.2:c.2971G>C (TECTA) | ENSP00000264037.2:p.Glu991Gln | |
| ENST00000392793.5:c.2971G>C (TECTA) | ENSP00000376543.1:p.Glu991Gln | |
| NM_005422.2:c.2971G>C (TECTA) | NP_005413.2:p.Glu991Gln | |
| NM_001378761.1:c.3928G>C (TBCEL-TECTA) | NP_001365690.1:p.Glu1310Gln | |
| NM_005422.4:c.2971G>C (TECTA) MANE Select | NP_005413.2:p.Glu991Gln |