Linked Data
dbSNP Id:
rs768119625
ExAC:
11:121033131 C / T
gnomAD v2:
11-121033131-C-T
gnomAD v4:
11-121162422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121162422C>T , CM000673.2:g.121162422C>T | GRCh38 |
| NC_000011.9:g.121033131C>T , CM000673.1:g.121033131C>T | GRCh37 |
| NC_000011.8:g.120538341C>T | NCBI36 |
| NG_011633.1:g.64757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5272+52C>T (TECTA) MANE Select | ENSP00000376543.1:n.5272+52C>T | |
| ENST00000642222.1:c.5257+52C>T (TECTA) | ENSP00000493855.1:n.5257+52C>T | |
| ENST00000645008.1:c.2564+52C>T (TECTA) | ||
| ENST00000646278.1:n.1193+52C>T (TECTA) | ||
| ENST00000264037.2:c.5272+52C>T (TECTA) | ENSP00000264037.2:n.5272+52C>T | |
| ENST00000392793.5:c.5272+52C>T (TECTA) | ENSP00000376543.1:n.5272+52C>T | |
| NM_005422.2:c.5272+52C>T (TECTA) | NP_005413.2:n.5272+52C>T | |
| NM_001378761.1:c.6214+52C>T (TBCEL-TECTA) | NP_001365690.1:n.6214+52C>T | |
| NM_005422.4:c.5272+52C>T (TECTA) MANE Select | NP_005413.2:n.5272+52C>T |