Linked Data
dbSNP Id:
rs759295785
ExAC:
11:121008247 A / T
gnomAD v2:
11-121008247-A-T
gnomAD v4:
11-121137538-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137538A>T , CM000673.2:g.121137538A>T | GRCh38 |
| NC_000011.9:g.121008247A>T , CM000673.1:g.121008247A>T | GRCh37 |
| NC_000011.8:g.120513457A>T | NCBI36 |
| NG_011633.1:g.39873A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3059A>T (TECTA) MANE Select | ENSP00000376543.1:p.Asp1020Val | |
| ENST00000642222.1:c.3059A>T (TECTA) | ENSP00000493855.1:p.Asp1020Val | |
| ENST00000645008.1:c.366A>T (TECTA) | ||
| ENST00000264037.2:c.3059A>T (TECTA) | ENSP00000264037.2:p.Asp1020Val | |
| ENST00000392793.5:c.3059A>T (TECTA) | ENSP00000376543.1:p.Asp1020Val | |
| NM_005422.2:c.3059A>T (TECTA) | NP_005413.2:p.Asp1020Val | |
| NM_001378761.1:c.4016A>T (TBCEL-TECTA) | NP_001365690.1:p.Asp1339Val | |
| NM_005422.4:c.3059A>T (TECTA) MANE Select | NP_005413.2:p.Asp1020Val |