Linked Data
ClinVar Variation Id:
2629859
ClinVar RCV Id:
RCV003412344
dbSNP Id:
rs1315696593
gnomAD v2:
11-121016562-G-T
gnomAD v4:
11-121145853-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145853G>T , CM000673.2:g.121145853G>T | GRCh38 |
| NC_000011.9:g.121016562G>T , CM000673.1:g.121016562G>T | GRCh37 |
| NC_000011.8:g.120521772G>T | NCBI36 |
| NG_011633.1:g.48188G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3842G>T (TECTA) MANE Select | ENSP00000376543.1:p.Cys1281Phe | |
| ENST00000642222.1:c.3842G>T (TECTA) | ENSP00000493855.1:p.Cys1281Phe | |
| ENST00000645008.1:c.1149G>T (TECTA) | ||
| ENST00000264037.2:c.3842G>T (TECTA) | ENSP00000264037.2:p.Cys1281Phe | |
| ENST00000392793.5:c.3842G>T (TECTA) | ENSP00000376543.1:p.Cys1281Phe | |
| ENST00000478058.1:n.407G>T (TECTA) | ||
| NM_005422.2:c.3842G>T (TECTA) | NP_005413.2:p.Cys1281Phe | |
| NM_001378761.1:c.4799G>T (TBCEL-TECTA) | NP_001365690.1:p.Cys1600Phe | |
| NM_005422.4:c.3842G>T (TECTA) MANE Select | NP_005413.2:p.Cys1281Phe |