Linked Data
dbSNP Id:
rs766811207
ExAC:
11:121032805 C / T
gnomAD v2:
11-121032805-C-T
gnomAD v4:
11-121162096-C-T
COSMIC:
COSM924026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121162096C>T , CM000673.2:g.121162096C>T | GRCh38 |
| NC_000011.9:g.121032805C>T , CM000673.1:g.121032805C>T | GRCh37 |
| NC_000011.8:g.120538015C>T | NCBI36 |
| NG_011633.1:g.64431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4998C>T (TECTA) MANE Select | ENSP00000376543.1:p.Asn1666= | |
| ENST00000642222.1:c.4983C>T (TECTA) | ENSP00000493855.1:p.Asn1661= | |
| ENST00000645008.1:c.2290C>T (TECTA) | ||
| ENST00000646278.1:n.919C>T (TECTA) | ||
| ENST00000264037.2:c.4998C>T (TECTA) | ENSP00000264037.2:p.Asn1666= | |
| ENST00000392793.5:c.4998C>T (TECTA) | ENSP00000376543.1:p.Asn1666= | |
| NM_005422.2:c.4998C>T (TECTA) | NP_005413.2:p.Asn1666= | |
| NM_001378761.1:c.5940C>T (TBCEL-TECTA) | NP_001365690.1:p.Asn1980= | |
| NM_005422.4:c.4998C>T (TECTA) MANE Select | NP_005413.2:p.Asn1666= |